SNP Links for Protein (Select 767957850) - SNP

Links from Protein

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Select item 14897795151.

rs1489779515 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:98208716 (GRCh38)
9:100970998 (GRCh37)
Canonical SPDI:: NC_000009.12:98208715:G:A
Gene:: TBC1D2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000447/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000009.12:g.98208716G>A, NC_000009.11:g.100970998G>A, NM_018421.4:c.2102C>T, NM_018421.3:c.2102C>T, XM_011518843.3:c.722C>T, XM_011518843.2:c.722C>T, XM_011518843.1:c.722C>T, NM_001267571.2:c.2102C>T, NM_001267571.1:c.2102C>T, NR_051978.2:n.2068C>T, NR_051978.1:n.2140C>T, XM_024447606.2:c.722C>T, XM_024447606.1:c.722C>T, NM_001410988.1:c.2102C>T, XM_047423564.1:c.2102C>T, XM_047423565.1:c.2102C>T, NM_001267572.1:c.722C>T, NP_060891.3:p.Ala701Val, XP_011517145.1:p.Ala241Val, NP_001254500.1:p.Ala701Val, XP_024303374.1:p.Ala241Val, XP_047279520.1:p.Ala701Val, XP_047279521.1:p.Ala701Val, NP_001254501.1:p.Ala241Val

Select item 14871684492.

rs1487168449 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:98201657 (GRCh38)
9:100963939 (GRCh37)
Canonical SPDI:: NC_000009.12:98201656:T:G
Gene:: TBC1D2 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.98201657T>G, NC_000009.11:g.100963939T>G, NM_018421.4:c.2279A>C, NM_018421.3:c.2279A>C, XM_011518843.3:c.899A>C, XM_011518843.2:c.899A>C, XM_011518843.1:c.899A>C, NM_001267571.2:c.2279A>C, NM_001267571.1:c.2279A>C, NR_051978.2:n.2245A>C, NR_051978.1:n.2317A>C, XM_024447606.2:c.899A>C, XM_024447606.1:c.899A>C, NM_001410988.1:c.2279A>C, XM_047423564.1:c.2279A>C, XM_047423565.1:c.*39A>C, NM_001267572.1:c.899A>C, NP_060891.3:p.Gln760Pro, XP_011517145.1:p.Gln300Pro, NP_001254500.1:p.Gln760Pro, XP_024303374.1:p.Gln300Pro, XP_047279520.1:p.Gln760Pro, NP_001254501.1:p.Gln300Pro

Select item 14817442113.

rs1481744211 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:98201505 (GRCh38)
9:100963787 (GRCh37)
Canonical SPDI:: NC_000009.12:98201504:C:T
Gene:: TBC1D2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.98201505C>T, NC_000009.11:g.100963787C>T, NM_018421.4:c.2431G>A, NM_018421.3:c.2431G>A, XM_011518843.3:c.1051G>A, XM_011518843.2:c.1051G>A, XM_011518843.1:c.1051G>A, NM_001267571.2:c.2431G>A, NM_001267571.1:c.2431G>A, NR_051978.2:n.2397G>A, NR_051978.1:n.2469G>A, XM_024447606.2:c.1051G>A, XM_024447606.1:c.1051G>A, NM_001410988.1:c.2431G>A, XM_047423564.1:c.2431G>A, NM_001267572.1:c.1051G>A, NP_060891.3:p.Asp811Asn, XP_011517145.1:p.Asp351Asn, NP_001254500.1:p.Asp811Asn, XP_024303374.1:p.Asp351Asn, XP_047279520.1:p.Asp811Asn, NP_001254501.1:p.Asp351Asn

Select item 14802096264.

rs1480209626 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:98209094 (GRCh38)
9:100971376 (GRCh37)
Canonical SPDI:: NC_000009.12:98209093:T:G
Gene:: TBC1D2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.0044/8 (Korea1K)
HGVS:: NC_000009.12:g.98209094T>G, NC_000009.11:g.100971376T>G, NM_018421.4:c.1724A>C, NM_018421.3:c.1724A>C, XM_011518843.3:c.344A>C, XM_011518843.2:c.344A>C, XM_011518843.1:c.344A>C, NM_001267571.2:c.1724A>C, NM_001267571.1:c.1724A>C, NR_051978.2:n.1690A>C, NR_051978.1:n.1762A>C, XM_024447606.2:c.344A>C, XM_024447606.1:c.344A>C, NM_001410988.1:c.1724A>C, XM_047423564.1:c.1724A>C, XM_047423565.1:c.1724A>C, NM_001267572.1:c.344A>C, NP_060891.3:p.Asp575Ala, XP_011517145.1:p.Asp115Ala, NP_001254500.1:p.Asp575Ala, XP_024303374.1:p.Asp115Ala, XP_047279520.1:p.Asp575Ala, XP_047279521.1:p.Asp575Ala, NP_001254501.1:p.Asp115Ala

Select item 14740785035.

rs1474078503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:98209035 (GRCh38)
9:100971317 (GRCh37)
Canonical SPDI:: NC_000009.12:98209034:G:A,NC_000009.12:98209034:G:T
Gene:: TBC1D2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000009.12:g.98209035G>A, NC_000009.12:g.98209035G>T, NC_000009.11:g.100971317G>A, NC_000009.11:g.100971317G>T, NM_018421.4:c.1783C>T, NM_018421.4:c.1783C>A, NM_018421.3:c.1783C>T, NM_018421.3:c.1783C>A, XM_011518843.3:c.403C>T, XM_011518843.3:c.403C>A, XM_011518843.2:c.403C>T, XM_011518843.2:c.403C>A, XM_011518843.1:c.403C>T, XM_011518843.1:c.403C>A, NM_001267571.2:c.1783C>T, NM_001267571.2:c.1783C>A, NM_001267571.1:c.1783C>T, NM_001267571.1:c.1783C>A, NR_051978.2:n.1749C>T, NR_051978.2:n.1749C>A, NR_051978.1:n.1821C>T, NR_051978.1:n.1821C>A, XM_024447606.2:c.403C>T, XM_024447606.2:c.403C>A, XM_024447606.1:c.403C>T, XM_024447606.1:c.403C>A, NM_001410988.1:c.1783C>T, NM_001410988.1:c.1783C>A, XM_047423564.1:c.1783C>T, XM_047423564.1:c.1783C>A, XM_047423565.1:c.1783C>T, XM_047423565.1:c.1783C>A, NM_001267572.1:c.403C>T, NM_001267572.1:c.403C>A, NP_060891.3:p.Leu595Phe, NP_060891.3:p.Leu595Ile, XP_011517145.1:p.Leu135Phe, XP_011517145.1:p.Leu135Ile, NP_001254500.1:p.Leu595Phe, NP_001254500.1:p.Leu595Ile, XP_024303374.1:p.Leu135Phe, XP_024303374.1:p.Leu135Ile, XP_047279520.1:p.Leu595Phe, XP_047279520.1:p.Leu595Ile, XP_047279521.1:p.Leu595Phe, XP_047279521.1:p.Leu595Ile, NP_001254501.1:p.Leu135Phe, NP_001254501.1:p.Leu135Ile

Select item 14717458866.

rs1471745886 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:98210834 (GRCh38)
9:100973116 (GRCh37)
Canonical SPDI:: NC_000009.12:98210833:G:A
Gene:: TBC1D2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000009.12:g.98210834G>A, NC_000009.11:g.100973116G>A, NM_018421.4:c.1495C>T, NM_018421.3:c.1495C>T, XM_011518843.3:c.115C>T, XM_011518843.2:c.115C>T, XM_011518843.1:c.115C>T, NM_001267571.2:c.1495C>T, NM_001267571.1:c.1495C>T, NR_051978.2:n.1461C>T, NR_051978.1:n.1533C>T, XM_024447606.2:c.115C>T, XM_024447606.1:c.115C>T, NM_001410988.1:c.1495C>T, XM_047423564.1:c.1495C>T, XM_047423565.1:c.1495C>T, NM_001267572.1:c.115C>T, NP_060891.3:p.Leu499Phe, XP_011517145.1:p.Leu39Phe, NP_001254500.1:p.Leu499Phe, XP_024303374.1:p.Leu39Phe, XP_047279520.1:p.Leu499Phe, XP_047279521.1:p.Leu499Phe, NP_001254501.1:p.Leu39Phe

Select item 14612952027.

rs1461295202 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:98210667 (GRCh38)
9:100972949 (GRCh37)
Canonical SPDI:: NC_000009.12:98210666:C:T
Gene:: TBC1D2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.98210667C>T, NC_000009.11:g.100972949C>T, NM_018421.4:c.1662G>A, NM_018421.3:c.1662G>A, XM_011518843.3:c.282G>A, XM_011518843.2:c.282G>A, XM_011518843.1:c.282G>A, NM_001267571.2:c.1662G>A, NM_001267571.1:c.1662G>A, NR_051978.2:n.1628G>A, NR_051978.1:n.1700G>A, XM_024447606.2:c.282G>A, XM_024447606.1:c.282G>A, NM_001410988.1:c.1662G>A, XM_047423564.1:c.1662G>A, XM_047423565.1:c.1662G>A, NM_001267572.1:c.282G>A

Select item 14564023998.

rs1456402399 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 9:98213131 (GRCh38)
9:100975413 (GRCh37)
Canonical SPDI:: NC_000009.12:98213128:CTTCT:CT
Gene:: TBC1D2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.98213131_98213133del, NC_000009.11:g.100975413_100975415del, NM_018421.4:c.1462_1464del, NM_018421.3:c.1462_1464del, XM_011518843.3:c.82_84del, XM_011518843.2:c.82_84del, XM_011518843.1:c.82_84del, NM_001267571.2:c.1462_1464del, NM_001267571.1:c.1462_1464del, NR_051978.2:n.1428_1430del, NR_051978.1:n.1500_1502del, XM_024447606.2:c.82_84del, XM_024447606.1:c.82_84del, NM_001410988.1:c.1462_1464del, XM_047423564.1:c.1462_1464del, XM_047423565.1:c.1462_1464del, NM_001267572.1:c.82_84del, NP_060891.3:p.Lys488del, XP_011517145.1:p.Lys28del, NP_001254500.1:p.Lys488del, XP_024303374.1:p.Lys28del, XP_047279520.1:p.Lys488del, XP_047279521.1:p.Lys488del, NP_001254501.1:p.Lys28del

Select item 14563823809.

rs1456382380 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:98208774 (GRCh38)
9:100971056 (GRCh37)
Canonical SPDI:: NC_000009.12:98208773:T:G
Gene:: TBC1D2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
G=0.000071/2 (TOMMO)
G=0.000546/1 (Korea1K)
HGVS:: NC_000009.12:g.98208774T>G, NC_000009.11:g.100971056T>G, NM_018421.4:c.2044A>C, NM_018421.3:c.2044A>C, XM_011518843.3:c.664A>C, XM_011518843.2:c.664A>C, XM_011518843.1:c.664A>C, NM_001267571.2:c.2044A>C, NM_001267571.1:c.2044A>C, NR_051978.2:n.2010A>C, NR_051978.1:n.2082A>C, XM_024447606.2:c.664A>C, XM_024447606.1:c.664A>C, NM_001410988.1:c.2044A>C, XM_047423564.1:c.2044A>C, XM_047423565.1:c.2044A>C, NM_001267572.1:c.664A>C, NP_060891.3:p.Lys682Gln, XP_011517145.1:p.Lys222Gln, NP_001254500.1:p.Lys682Gln, XP_024303374.1:p.Lys222Gln, XP_047279520.1:p.Lys682Gln, XP_047279521.1:p.Lys682Gln, NP_001254501.1:p.Lys222Gln

Select item 144838300410.

rs1448383004 [Homo sapiens]

Variant type:: DEL
Alleles:: TGA>- [Show Flanks]
Chromosome:: 9:98208973 (GRCh38)
9:100971255 (GRCh37)
Canonical SPDI:: NC_000009.12:98208972:TGA:
Gene:: TBC1D2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: -=0.00009/1 (ALFA)
HGVS:: NC_000009.12:g.98208973_98208975del, NC_000009.11:g.100971255_100971257del, NM_018421.4:c.1843_1845del, NM_018421.3:c.1843_1845del, XM_011518843.3:c.463_465del, XM_011518843.2:c.463_465del, XM_011518843.1:c.463_465del, NM_001267571.2:c.1843_1845del, NM_001267571.1:c.1843_1845del, NR_051978.2:n.1809_1811del, NR_051978.1:n.1881_1883del, XM_024447606.2:c.463_465del, XM_024447606.1:c.463_465del, NM_001410988.1:c.1843_1845del, XM_047423564.1:c.1843_1845del, XM_047423565.1:c.1843_1845del, NM_001267572.1:c.463_465del, NP_060891.3:p.Ser615del, XP_011517145.1:p.Ser155del, NP_001254500.1:p.Ser615del, XP_024303374.1:p.Ser155del, XP_047279520.1:p.Ser615del, XP_047279521.1:p.Ser615del, NP_001254501.1:p.Ser155del

Select item 144758551511.

rs1447585515 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:98200299 (GRCh38)
9:100962581 (GRCh37)
Canonical SPDI:: NC_000009.12:98200298:T:C
Gene:: TBC1D2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.98200299T>C, NC_000009.11:g.100962581T>C, NM_018421.4:c.2500A>G, NM_018421.3:c.2500A>G, XM_011518843.3:c.1153A>G, XM_011518843.2:c.1153A>G, XM_011518843.1:c.1153A>G, NM_001267571.2:c.2533A>G, NM_001267571.1:c.2533A>G, NR_051978.2:n.2499A>G, NR_051978.1:n.2571A>G, XM_024447606.2:c.1153A>G, XM_024447606.1:c.1153A>G, NM_001410988.1:c.2533A>G, XM_047423564.1:c.2533A>G, NM_001267572.1:c.1153A>G, NP_060891.3:p.Ile834Val, XP_011517145.1:p.Ile385Val, NP_001254500.1:p.Ile845Val, XP_024303374.1:p.Ile385Val, XP_047279520.1:p.Ile845Val, NP_001254501.1:p.Ile385Val

Select item 144215628012.

rs1442156280 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:98200260 (GRCh38)
9:100962542 (GRCh37)
Canonical SPDI:: NC_000009.12:98200259:T:G
Gene:: TBC1D2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.98200260T>G, NC_000009.11:g.100962542T>G, NM_018421.4:c.2539A>C, NM_018421.3:c.2539A>C, XM_011518843.3:c.1192A>C, XM_011518843.2:c.1192A>C, XM_011518843.1:c.1192A>C, NM_001267571.2:c.2572A>C, NM_001267571.1:c.2572A>C, NR_051978.2:n.2538A>C, NR_051978.1:n.2610A>C, XM_024447606.2:c.1192A>C, XM_024447606.1:c.1192A>C, NM_001410988.1:c.2572A>C, XM_047423564.1:c.2572A>C, NM_001267572.1:c.1192A>C, NP_060891.3:p.Asn847His, XP_011517145.1:p.Asn398His, NP_001254500.1:p.Asn858His, XP_024303374.1:p.Asn398His, XP_047279520.1:p.Asn858His, NP_001254501.1:p.Asn398His

Select item 144152714613.

rs1441527146 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:98209100 (GRCh38)
9:100971382 (GRCh37)
Canonical SPDI:: NC_000009.12:98209099:A:C
Gene:: TBC1D2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.98209100A>C, NC_000009.11:g.100971382A>C, NM_018421.4:c.1718T>G, NM_018421.3:c.1718T>G, XM_011518843.3:c.338T>G, XM_011518843.2:c.338T>G, XM_011518843.1:c.338T>G, NM_001267571.2:c.1718T>G, NM_001267571.1:c.1718T>G, NR_051978.2:n.1684T>G, NR_051978.1:n.1756T>G, XM_024447606.2:c.338T>G, XM_024447606.1:c.338T>G, NM_001410988.1:c.1718T>G, XM_047423564.1:c.1718T>G, XM_047423565.1:c.1718T>G, NM_001267572.1:c.338T>G, NP_060891.3:p.Val573Gly, XP_011517145.1:p.Val113Gly, NP_001254500.1:p.Val573Gly, XP_024303374.1:p.Val113Gly, XP_047279520.1:p.Val573Gly, XP_047279521.1:p.Val573Gly, NP_001254501.1:p.Val113Gly

Select item 143370786614.

rs1433707866 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:98210826 (GRCh38)
9:100973108 (GRCh37)
Canonical SPDI:: NC_000009.12:98210825:G:A
Gene:: TBC1D2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.98210826G>A, NC_000009.11:g.100973108G>A, NM_018421.4:c.1503C>T, NM_018421.3:c.1503C>T, XM_011518843.3:c.123C>T, XM_011518843.2:c.123C>T, XM_011518843.1:c.123C>T, NM_001267571.2:c.1503C>T, NM_001267571.1:c.1503C>T, NR_051978.2:n.1469C>T, NR_051978.1:n.1541C>T, XM_024447606.2:c.123C>T, XM_024447606.1:c.123C>T, NM_001410988.1:c.1503C>T, XM_047423564.1:c.1503C>T, XM_047423565.1:c.1503C>T, NM_001267572.1:c.123C>T

Select item 143141529715.

rs1431415297 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:98199510 (GRCh38)
9:100961792 (GRCh37)
Canonical SPDI:: NC_000009.12:98199509:C:G
Gene:: TBC1D2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.98199510C>G, NC_000009.11:g.100961792C>G, NM_018421.4:c.2625G>C, NM_018421.3:c.2625G>C, XM_011518843.3:c.1278G>C, XM_011518843.2:c.1278G>C, XM_011518843.1:c.1278G>C, NM_001267571.2:c.2658G>C, NM_001267571.1:c.2658G>C, NR_051978.2:n.2624G>C, NR_051978.1:n.2696G>C, XM_024447606.2:c.1278G>C, XM_024447606.1:c.1278G>C, NM_001410988.1:c.*71G>C, XM_047423564.1:c.*71G>C, NM_001267572.1:c.1278G>C

Select item 142984918416.

rs1429849184 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:98201606 (GRCh38)
9:100963888 (GRCh37)
Canonical SPDI:: NC_000009.12:98201605:T:C
Gene:: TBC1D2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.98201606T>C, NC_000009.11:g.100963888T>C, NM_018421.4:c.2330A>G, NM_018421.3:c.2330A>G, XM_011518843.3:c.950A>G, XM_011518843.2:c.950A>G, XM_011518843.1:c.950A>G, NM_001267571.2:c.2330A>G, NM_001267571.1:c.2330A>G, NR_051978.2:n.2296A>G, NR_051978.1:n.2368A>G, XM_024447606.2:c.950A>G, XM_024447606.1:c.950A>G, NM_001410988.1:c.2330A>G, XM_047423564.1:c.2330A>G, XM_047423565.1:c.*90A>G, NM_001267572.1:c.950A>G, NP_060891.3:p.His777Arg, XP_011517145.1:p.His317Arg, NP_001254500.1:p.His777Arg, XP_024303374.1:p.His317Arg, XP_047279520.1:p.His777Arg, NP_001254501.1:p.His317Arg

Select item 142474924617.

rs1424749246 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:98210662 (GRCh38)
9:100972944 (GRCh37)
Canonical SPDI:: NC_000009.12:98210661:G:A
Gene:: TBC1D2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000009.12:g.98210662G>A, NC_000009.11:g.100972944G>A, NM_018421.4:c.1667C>T, NM_018421.3:c.1667C>T, XM_011518843.3:c.287C>T, XM_011518843.2:c.287C>T, XM_011518843.1:c.287C>T, NM_001267571.2:c.1667C>T, NM_001267571.1:c.1667C>T, NR_051978.2:n.1633C>T, NR_051978.1:n.1705C>T, XM_024447606.2:c.287C>T, XM_024447606.1:c.287C>T, NM_001410988.1:c.1667C>T, XM_047423564.1:c.1667C>T, XM_047423565.1:c.1667C>T, NM_001267572.1:c.287C>T, NP_060891.3:p.Pro556Leu, XP_011517145.1:p.Pro96Leu, NP_001254500.1:p.Pro556Leu, XP_024303374.1:p.Pro96Leu, XP_047279520.1:p.Pro556Leu, XP_047279521.1:p.Pro556Leu, NP_001254501.1:p.Pro96Leu

Select item 142128819218.

rs1421288192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:98208798 (GRCh38)
9:100971080 (GRCh37)
Canonical SPDI:: NC_000009.12:98208797:G:A
Gene:: TBC1D2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.98208798G>A, NC_000009.11:g.100971080G>A, NM_018421.4:c.2020C>T, NM_018421.3:c.2020C>T, XM_011518843.3:c.640C>T, XM_011518843.2:c.640C>T, XM_011518843.1:c.640C>T, NM_001267571.2:c.2020C>T, NM_001267571.1:c.2020C>T, NR_051978.2:n.1986C>T, NR_051978.1:n.2058C>T, XM_024447606.2:c.640C>T, XM_024447606.1:c.640C>T, NM_001410988.1:c.2020C>T, XM_047423564.1:c.2020C>T, XM_047423565.1:c.2020C>T, NM_001267572.1:c.640C>T

Select item 142038384819.

rs1420383848 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:98200371 (GRCh38)
9:100962653 (GRCh37)
Canonical SPDI:: NC_000009.12:98200370:C:T
Gene:: TBC1D2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.98200371C>T, NC_000009.11:g.100962653C>T, XM_011518843.3:c.1081G>A, XM_011518843.2:c.1081G>A, XM_011518843.1:c.1081G>A, NM_001267571.2:c.2461G>A, NM_001267571.1:c.2461G>A, NR_051978.2:n.2427G>A, NR_051978.1:n.2499G>A, XM_024447606.2:c.1081G>A, XM_024447606.1:c.1081G>A, NM_001410988.1:c.2461G>A, XM_047423564.1:c.2461G>A, NM_001267572.1:c.1081G>A, XP_011517145.1:p.Val361Met, NP_001254500.1:p.Val821Met, XP_024303374.1:p.Val361Met, XP_047279520.1:p.Val821Met, NP_001254501.1:p.Val361Met

Select item 141841639520.

rs1418416395 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:98209045 (GRCh38)
9:100971327 (GRCh37)
Canonical SPDI:: NC_000009.12:98209044:G:A,NC_000009.12:98209044:G:C
Gene:: TBC1D2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.98209045G>A, NC_000009.12:g.98209045G>C, NC_000009.11:g.100971327G>A, NC_000009.11:g.100971327G>C, NM_018421.4:c.1773C>T, NM_018421.4:c.1773C>G, NM_018421.3:c.1773C>T, NM_018421.3:c.1773C>G, XM_011518843.3:c.393C>T, XM_011518843.3:c.393C>G, XM_011518843.2:c.393C>T, XM_011518843.2:c.393C>G, XM_011518843.1:c.393C>T, XM_011518843.1:c.393C>G, NM_001267571.2:c.1773C>T, NM_001267571.2:c.1773C>G, NM_001267571.1:c.1773C>T, NM_001267571.1:c.1773C>G, NR_051978.2:n.1739C>T, NR_051978.2:n.1739C>G, NR_051978.1:n.1811C>T, NR_051978.1:n.1811C>G, XM_024447606.2:c.393C>T, XM_024447606.2:c.393C>G, XM_024447606.1:c.393C>T, XM_024447606.1:c.393C>G, NM_001410988.1:c.1773C>T, NM_001410988.1:c.1773C>G, XM_047423564.1:c.1773C>T, XM_047423564.1:c.1773C>G, XM_047423565.1:c.1773C>T, XM_047423565.1:c.1773C>G, NM_001267572.1:c.393C>T, NM_001267572.1:c.393C>G, NP_060891.3:p.His591Gln, XP_011517145.1:p.His131Gln, NP_001254500.1:p.His591Gln, XP_024303374.1:p.His131Gln, XP_047279520.1:p.His591Gln, XP_047279521.1:p.His591Gln, NP_001254501.1:p.His131Gln

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