SNP Links for Protein (Select 1002341781) - SNP

Links from Protein

Items: 1 to 20 of 379

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Select item 14814161711.

rs1481416171 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:68043269 (GRCh38)
17:66039385 (GRCh37)
Canonical SPDI:: NC_000017.11:68043268:C:G
Gene:: KPNA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.68043269C>G, NC_000017.10:g.66039385C>G, NW_003871088.1:g.103280C>G, NM_002266.4:c.836C>G, NM_002266.3:c.836C>G, NM_002266.2:c.836C>G, NM_001320611.2:c.836C>G, NM_001320611.1:c.836C>G, NP_002257.1:p.Thr279Ser, NP_001307540.1:p.Thr279Ser

Select item 14793869092.

rs1479386909 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:68043145 (GRCh38)
17:66039261 (GRCh37)
Canonical SPDI:: NC_000017.11:68043144:C:T
Gene:: KPNA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.68043145C>T, NC_000017.10:g.66039261C>T, NW_003871088.1:g.103156C>T, NM_002266.4:c.712C>T, NM_002266.3:c.712C>T, NM_002266.2:c.712C>T, NM_001320611.2:c.712C>T, NM_001320611.1:c.712C>T, NP_002257.1:p.Arg238Cys, NP_001307540.1:p.Arg238Cys

Select item 14765570223.

rs1476557022 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:68042915 (GRCh38)
17:66039031 (GRCh37)
Canonical SPDI:: NC_000017.11:68042914:A:C,NC_000017.11:68042914:A:G
Gene:: KPNA2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.68042915A>C, NC_000017.11:g.68042915A>G, NC_000017.10:g.66039031A>C, NC_000017.10:g.66039031A>G, NW_003871088.1:g.102926A>C, NW_003871088.1:g.102926A>G, NM_002266.4:c.582A>C, NM_002266.4:c.582A>G, NM_002266.3:c.582A>C, NM_002266.3:c.582A>G, NM_002266.2:c.582A>C, NM_002266.2:c.582A>G, NM_001320611.2:c.582A>C, NM_001320611.2:c.582A>G, NM_001320611.1:c.582A>C, NM_001320611.1:c.582A>G

Select item 14763874654.

rs1476387465 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:68046514 (GRCh38)
17:66042630 (GRCh37)
Canonical SPDI:: NC_000017.11:68046513:A:C
Gene:: KPNA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.68046514A>C, NC_000017.10:g.66042630A>C, NW_003871088.1:g.106525A>C, NM_002266.4:c.1508A>C, NM_002266.3:c.1508A>C, NM_002266.2:c.1508A>C, NM_001320611.2:c.1508A>C, NM_001320611.1:c.1508A>C, NP_002257.1:p.Asp503Ala, NP_001307540.1:p.Asp503Ala

Select item 14709027925.

rs1470902792 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:68043363 (GRCh38)
17:66039479 (GRCh37)
Canonical SPDI:: NC_000017.11:68043362:G:A,NC_000017.11:68043362:G:C
Gene:: KPNA2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000017.11:g.68043363G>A, NC_000017.11:g.68043363G>C, NC_000017.10:g.66039479G>A, NC_000017.10:g.66039479G>C, NW_003871088.1:g.103374G>A, NW_003871088.1:g.103374G>C, NM_002266.4:c.930G>A, NM_002266.4:c.930G>C, NM_002266.3:c.930G>A, NM_002266.3:c.930G>C, NM_002266.2:c.930G>A, NM_002266.2:c.930G>C, NM_001320611.2:c.930G>A, NM_001320611.2:c.930G>C, NM_001320611.1:c.930G>A, NM_001320611.1:c.930G>C

Select item 14699738166.

rs1469973816 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:68045815 (GRCh38)
17:66041931 (GRCh37)
Canonical SPDI:: NC_000017.11:68045814:T:C
Gene:: KPNA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.68045815T>C, NC_000017.10:g.66041931T>C, NW_003871088.1:g.105826T>C, NM_002266.4:c.1391T>C, NM_002266.3:c.1391T>C, NM_002266.2:c.1391T>C, NM_001320611.2:c.1391T>C, NM_001320611.1:c.1391T>C, NP_002257.1:p.Ile464Thr, NP_001307540.1:p.Ile464Thr

Select item 14661619127.

rs1466161912 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:68045861 (GRCh38)
17:66041977 (GRCh37)
Canonical SPDI:: NC_000017.11:68045860:T:C
Gene:: KPNA2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.68045861T>C, NC_000017.10:g.66041977T>C, NW_003871088.1:g.105872T>C, NM_002266.4:c.1437T>C, NM_002266.3:c.1437T>C, NM_002266.2:c.1437T>C, NM_001320611.2:c.1437T>C, NM_001320611.1:c.1437T>C

Select item 14648688308.

rs1464868830 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:68037141 (GRCh38)
17:66033257 (GRCh37)
Canonical SPDI:: NC_000017.11:68037140:C:A,NC_000017.11:68037140:C:T
Gene:: KPNA2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000094/25 (TOPMED)
T=0.000107/15 (GnomAD)
HGVS:: NC_000017.11:g.68037141C>A, NC_000017.11:g.68037141C>T, NC_000017.10:g.66033257C>A, NC_000017.10:g.66033257C>T, NW_003871088.1:g.97152C>A, NW_003871088.1:g.97152C>T, NM_002266.4:c.9C>A, NM_002266.4:c.9C>T, NM_002266.3:c.9C>A, NM_002266.3:c.9C>T, NM_002266.2:c.9C>A, NM_002266.2:c.9C>T, NM_001320611.2:c.9C>A, NM_001320611.2:c.9C>T, NM_001320611.1:c.9C>A, NM_001320611.1:c.9C>T

Select item 14520289469.

rs1452028946 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:68045848 (GRCh38)
17:66041964 (GRCh37)
Canonical SPDI:: NC_000017.11:68045847:C:T
Gene:: KPNA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.68045848C>T, NC_000017.10:g.66041964C>T, NW_003871088.1:g.105859C>T, NM_002266.4:c.1424C>T, NM_002266.3:c.1424C>T, NM_002266.2:c.1424C>T, NM_001320611.2:c.1424C>T, NM_001320611.1:c.1424C>T, NP_002257.1:p.Ala475Val, NP_001307540.1:p.Ala475Val

Select item 144643230210.

rs1446432302 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:68044011 (GRCh38)
17:66040127 (GRCh37)
Canonical SPDI:: NC_000017.11:68044010:C:T
Gene:: KPNA2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.68044011C>T, NC_000017.10:g.66040127C>T, NW_003871088.1:g.104022C>T, NM_002266.4:c.1104C>T, NM_002266.3:c.1104C>T, NM_002266.2:c.1104C>T, NM_001320611.2:c.1104C>T, NM_001320611.1:c.1104C>T

Select item 144557374511.

rs1445573745 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:68040722 (GRCh38)
17:66036838 (GRCh37)
Canonical SPDI:: NC_000017.11:68040721:T:G
Gene:: KPNA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.68040722T>G, NC_000017.10:g.66036838T>G, NW_003871088.1:g.100733T>G, NM_002266.4:c.258T>G, NM_002266.3:c.258T>G, NM_002266.2:c.258T>G, NM_001320611.2:c.258T>G, NM_001320611.1:c.258T>G, NP_002257.1:p.Asn86Lys, NP_001307540.1:p.Asn86Lys

Select item 144493430012.

rs1444934300 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:68044054 (GRCh38)
17:66040170 (GRCh37)
Canonical SPDI:: NC_000017.11:68044053:G:A
Gene:: KPNA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.68044054G>A, NC_000017.10:g.66040170G>A, NW_003871088.1:g.104065G>A, NM_002266.4:c.1147G>A, NM_002266.3:c.1147G>A, NM_002266.2:c.1147G>A, NM_001320611.2:c.1147G>A, NM_001320611.1:c.1147G>A, NP_002257.1:p.Val383Ile, NP_001307540.1:p.Val383Ile

Select item 144359449913.

rs1443594499 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:68042188 (GRCh38)
17:66038304 (GRCh37)
Canonical SPDI:: NC_000017.11:68042187:A:G
Gene:: KPNA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000017.11:g.68042188A>G, NC_000017.10:g.66038304A>G, NW_003871088.1:g.102199A>G, NM_002266.4:c.406A>G, NM_002266.3:c.406A>G, NM_002266.2:c.406A>G, NM_001320611.2:c.406A>G, NM_001320611.1:c.406A>G, NP_002257.1:p.Ile136Val, NP_001307540.1:p.Ile136Val

Select item 144180817314.

rs1441808173 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:68043960 (GRCh38)
17:66040076 (GRCh37)
Canonical SPDI:: NC_000017.11:68043959:T:A
Gene:: KPNA2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.68043960T>A, NC_000017.10:g.66040076T>A, NW_003871088.1:g.103971T>A, NM_002266.4:c.1053T>A, NM_002266.3:c.1053T>A, NM_002266.2:c.1053T>A, NM_001320611.2:c.1053T>A, NM_001320611.1:c.1053T>A

Select item 143218076715.

rs1432180767 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:68044369 (GRCh38)
17:66040485 (GRCh37)
Canonical SPDI:: NC_000017.11:68044368:A:T
Gene:: KPNA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.68044369A>T, NC_000017.10:g.66040485A>T, NW_003871088.1:g.104380A>T, NM_002266.4:c.1213A>T, NM_002266.3:c.1213A>T, NM_002266.2:c.1213A>T, NM_001320611.2:c.1213A>T, NM_001320611.1:c.1213A>T, NP_002257.1:p.Thr405Ser, NP_001307540.1:p.Thr405Ser

Select item 142891742216.

rs1428917422 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:68044428 (GRCh38)
17:66040544 (GRCh37)
Canonical SPDI:: NC_000017.11:68044427:G:A
Gene:: KPNA2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.68044428G>A, NC_000017.10:g.66040544G>A, NW_003871088.1:g.104439G>A, NM_002266.4:c.1272G>A, NM_002266.3:c.1272G>A, NM_002266.2:c.1272G>A, NM_001320611.2:c.1272G>A, NM_001320611.1:c.1272G>A

Select item 142564386717.

rs1425643867 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:68043116 (GRCh38)
17:66039232 (GRCh37)
Canonical SPDI:: NC_000017.11:68043115:A:C
Gene:: KPNA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.68043116A>C, NC_000017.10:g.66039232A>C, NW_003871088.1:g.103127A>C, NM_002266.4:c.683A>C, NM_002266.3:c.683A>C, NM_002266.2:c.683A>C, NM_001320611.2:c.683A>C, NM_001320611.1:c.683A>C, NP_002257.1:p.Asn228Thr, NP_001307540.1:p.Asn228Thr

Select item 140662826118.

rs1406628261 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:68043255 (GRCh38)
17:66039371 (GRCh37)
Canonical SPDI:: NC_000017.11:68043254:T:C
Gene:: KPNA2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.68043255T>C, NC_000017.10:g.66039371T>C, NW_003871088.1:g.103266T>C, NM_002266.4:c.822T>C, NM_002266.3:c.822T>C, NM_002266.2:c.822T>C, NM_001320611.2:c.822T>C, NM_001320611.1:c.822T>C

Select item 140610061219.

rs1406100612 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:68043214 (GRCh38)
17:66039330 (GRCh37)
Canonical SPDI:: NC_000017.11:68043213:C:A
Gene:: KPNA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.68043214C>A, NC_000017.10:g.66039330C>A, NW_003871088.1:g.103225C>A, NM_002266.4:c.781C>A, NM_002266.3:c.781C>A, NM_002266.2:c.781C>A, NM_001320611.2:c.781C>A, NM_001320611.1:c.781C>A, NP_002257.1:p.His261Asn, NP_001307540.1:p.His261Asn

Select item 139141982020.

rs1391419820 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:68045919 (GRCh38)
17:66042035 (GRCh37)
Canonical SPDI:: NC_000017.11:68045918:G:A
Gene:: KPNA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.68045919G>A, NC_000017.10:g.66042035G>A, NW_003871088.1:g.105930G>A, NM_002266.4:c.1495G>A, NM_002266.3:c.1495G>A, NM_002266.2:c.1495G>A, NM_001320611.2:c.1495G>A, NM_001320611.1:c.1495G>A, NP_002257.1:p.Glu499Lys, NP_001307540.1:p.Glu499Lys

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