SNP Links for Protein (Select 530373389) - SNP

Links from Protein

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Select item 14900300501.

rs1490030050 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:38481372 (GRCh38)
3:38522863 (GRCh37)
Canonical SPDI:: NC_000003.12:38481371:A:G
Gene:: ACVR2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.38481372A>G, NC_000003.11:g.38522863A>G, NG_011791.1:g.32074A>G, NM_001106.4:c.981A>G, NM_001106.3:c.981A>G, XM_005265583.4:c.1044A>G, XM_005265583.3:c.1044A>G, XM_005265583.2:c.1044A>G, XM_005265583.1:c.1044A>G, XM_017007515.3:c.999A>G, XM_017007515.2:c.999A>G, XM_017007515.1:c.999A>G, XM_017007516.2:c.978A>G, XM_017007516.1:c.978A>G, XM_017007514.2:c.1023A>G, XM_017007514.1:c.1023A>G

Select item 14891831702.

rs1489183170 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:38477888 (GRCh38)
3:38519379 (GRCh37)
Canonical SPDI:: NC_000003.12:38477887:C:T
Gene:: ACVR2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.38477888C>T, NC_000003.11:g.38519379C>T, NG_011791.1:g.28590C>T, NM_001106.4:c.288C>T, NM_001106.3:c.288C>T, XM_005265583.4:c.351C>T, XM_005265583.3:c.351C>T, XM_005265583.2:c.351C>T, XM_005265583.1:c.351C>T, XM_017007515.3:c.306C>T, XM_017007515.2:c.306C>T, XM_017007515.1:c.306C>T, XM_017007516.2:c.285C>T, XM_017007516.1:c.285C>T, XM_017007514.2:c.330C>T, XM_017007514.1:c.330C>T

Select item 14845865883.

rs1484586588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:38483205 (GRCh38)
3:38524696 (GRCh37)
Canonical SPDI:: NC_000003.12:38483204:C:T
Gene:: ACVR2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000003.12:g.38483205C>T, NC_000003.11:g.38524696C>T, NG_011791.1:g.33907C>T, NM_001106.4:c.1412C>T, NM_001106.3:c.1412C>T, XM_005265583.4:c.1475C>T, XM_005265583.3:c.1475C>T, XM_005265583.2:c.1475C>T, XM_005265583.1:c.1475C>T, XM_017007515.3:c.1430C>T, XM_017007515.2:c.1430C>T, XM_017007515.1:c.1430C>T, XM_017007516.2:c.1409C>T, XM_017007516.1:c.1409C>T, XM_017007514.2:c.1454C>T, XM_017007514.1:c.1454C>T, NP_001097.2:p.Ala471Val, XP_005265640.1:p.Ala492Val, XP_016863004.1:p.Ala477Val, XP_016863005.1:p.Ala470Val, XP_016863003.1:p.Ala485Val

Select item 14779520874.

rs1477952087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:38459663 (GRCh38)
3:38501154 (GRCh37)
Canonical SPDI:: NC_000003.12:38459662:G:A
Gene:: ACVR2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.38459663G>A, NC_000003.11:g.38501154G>A, NG_011791.1:g.10365G>A, XM_005265583.4:c.89G>A, XM_005265583.3:c.89G>A, XM_005265583.2:c.89G>A, XM_005265583.1:c.89G>A, XM_017007514.2:c.89G>A, XM_017007514.1:c.89G>A, XP_005265640.1:p.Arg30Lys, XP_016863003.1:p.Arg30Lys

Select item 14774309045.

rs1477430904 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:38478277 (GRCh38)
3:38519768 (GRCh37)
Canonical SPDI:: NC_000003.12:38478276:T:C
Gene:: ACVR2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.38478277T>C, NC_000003.11:g.38519768T>C, NG_011791.1:g.28979T>C, NM_001106.4:c.507T>C, NM_001106.3:c.507T>C, XM_005265583.4:c.570T>C, XM_005265583.3:c.570T>C, XM_005265583.2:c.570T>C, XM_005265583.1:c.570T>C, XM_017007515.3:c.525T>C, XM_017007515.2:c.525T>C, XM_017007515.1:c.525T>C, XM_017007516.2:c.504T>C, XM_017007516.1:c.504T>C, XM_017007514.2:c.549T>C, XM_017007514.1:c.549T>C

Select item 14759904616.

rs1475990461 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:38459590 (GRCh38)
3:38501081 (GRCh37)
Canonical SPDI:: NC_000003.12:38459589:A:G
Gene:: ACVR2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_upstream_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_000003.12:g.38459590A>G, NC_000003.11:g.38501081A>G, NG_011791.1:g.10292A>G, XM_005265583.4:c.16A>G, XM_005265583.3:c.16A>G, XM_005265583.2:c.16A>G, XM_005265583.1:c.16A>G, XM_017007514.2:c.16A>G, XM_017007514.1:c.16A>G, XP_005265640.1:p.Ser6Gly, XP_016863003.1:p.Ser6Gly

Select item 14758705097.

rs1475870509 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:38477370 (GRCh38)
3:38518861 (GRCh37)
Canonical SPDI:: NC_000003.12:38477369:C:T
Gene:: ACVR2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.38477370C>T, NC_000003.11:g.38518861C>T, NG_011791.1:g.28072C>T, NM_001106.4:c.136C>T, NM_001106.3:c.136C>T, XM_005265583.4:c.199C>T, XM_005265583.3:c.199C>T, XM_005265583.2:c.199C>T, XM_005265583.1:c.199C>T, XM_017007515.3:c.154C>T, XM_017007515.2:c.154C>T, XM_017007515.1:c.154C>T, XM_017007516.2:c.133C>T, XM_017007516.1:c.133C>T, XM_017007514.2:c.178C>T, XM_017007514.1:c.178C>T

Select item 14718450008.

rs1471845000 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:38479255 (GRCh38)
3:38520746 (GRCh37)
Canonical SPDI:: NC_000003.12:38479254:C:T
Gene:: ACVR2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.38479255C>T, NC_000003.11:g.38520746C>T, NG_011791.1:g.29957C>T, NM_001106.4:c.794C>T, NM_001106.3:c.794C>T, XM_005265583.4:c.857C>T, XM_005265583.3:c.857C>T, XM_005265583.2:c.857C>T, XM_005265583.1:c.857C>T, XM_017007515.3:c.812C>T, XM_017007515.2:c.812C>T, XM_017007515.1:c.812C>T, XM_017007516.2:c.791C>T, XM_017007516.1:c.791C>T, XM_017007514.2:c.836C>T, XM_017007514.1:c.836C>T, NP_001097.2:p.Thr265Met, XP_005265640.1:p.Thr286Met, XP_016863004.1:p.Thr271Met, XP_016863005.1:p.Thr264Met, XP_016863003.1:p.Thr279Met

Select item 14715154409.

rs1471515440 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:38478493 (GRCh38)
3:38519984 (GRCh37)
Canonical SPDI:: NC_000003.12:38478492:T:C
Gene:: ACVR2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.38478493T>C, NC_000003.11:g.38519984T>C, NG_011791.1:g.29195T>C, NM_001106.4:c.641T>C, NM_001106.3:c.641T>C, XM_005265583.4:c.704T>C, XM_005265583.3:c.704T>C, XM_005265583.2:c.704T>C, XM_005265583.1:c.704T>C, XM_017007515.3:c.659T>C, XM_017007515.2:c.659T>C, XM_017007515.1:c.659T>C, XM_017007516.2:c.638T>C, XM_017007516.1:c.638T>C, XM_017007514.2:c.683T>C, XM_017007514.1:c.683T>C, NP_001097.2:p.Val214Ala, XP_005265640.1:p.Val235Ala, XP_016863004.1:p.Val220Ala, XP_016863005.1:p.Val213Ala, XP_016863003.1:p.Val228Ala

Select item 147095582110.

rs1470955821 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:38479164 (GRCh38)
3:38520655 (GRCh37)
Canonical SPDI:: NC_000003.12:38479163:A:G
Gene:: ACVR2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.38479164A>G, NC_000003.11:g.38520655A>G, NG_011791.1:g.29866A>G, NM_001106.4:c.703A>G, NM_001106.3:c.703A>G, XM_005265583.4:c.766A>G, XM_005265583.3:c.766A>G, XM_005265583.2:c.766A>G, XM_005265583.1:c.766A>G, XM_017007515.3:c.721A>G, XM_017007515.2:c.721A>G, XM_017007515.1:c.721A>G, XM_017007516.2:c.700A>G, XM_017007516.1:c.700A>G, XM_017007514.2:c.745A>G, XM_017007514.1:c.745A>G, NP_001097.2:p.Ser235Gly, XP_005265640.1:p.Ser256Gly, XP_016863004.1:p.Ser241Gly, XP_016863005.1:p.Ser234Gly, XP_016863003.1:p.Ser249Gly

Select item 146566510211.

rs1465665102 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 3:38478196 (GRCh38)
3:38519687 (GRCh37)
Canonical SPDI:: NC_000003.12:38478195:A:C,NC_000003.12:38478195:A:G
Gene:: ACVR2B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.38478196A>C, NC_000003.12:g.38478196A>G, NC_000003.11:g.38519687A>C, NC_000003.11:g.38519687A>G, NG_011791.1:g.28898A>C, NG_011791.1:g.28898A>G, NM_001106.4:c.426A>C, NM_001106.4:c.426A>G, NM_001106.3:c.426A>C, NM_001106.3:c.426A>G, XM_005265583.4:c.489A>C, XM_005265583.4:c.489A>G, XM_005265583.3:c.489A>C, XM_005265583.3:c.489A>G, XM_005265583.2:c.489A>C, XM_005265583.2:c.489A>G, XM_005265583.1:c.489A>C, XM_005265583.1:c.489A>G, XM_017007515.3:c.444A>C, XM_017007515.3:c.444A>G, XM_017007515.2:c.444A>C, XM_017007515.2:c.444A>G, XM_017007515.1:c.444A>C, XM_017007515.1:c.444A>G, XM_017007516.2:c.423A>C, XM_017007516.2:c.423A>G, XM_017007516.1:c.423A>C, XM_017007516.1:c.423A>G, XM_017007514.2:c.468A>C, XM_017007514.2:c.468A>G, XM_017007514.1:c.468A>C, XM_017007514.1:c.468A>G

Select item 146456439212.

rs1464564392 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:38482439 (GRCh38)
3:38523930 (GRCh37)
Canonical SPDI:: NC_000003.12:38482438:A:G
Gene:: ACVR2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.38482439A>G, NC_000003.11:g.38523930A>G, NG_011791.1:g.33141A>G, NM_001106.4:c.1223A>G, NM_001106.3:c.1223A>G, XM_005265583.4:c.1286A>G, XM_005265583.3:c.1286A>G, XM_005265583.2:c.1286A>G, XM_005265583.1:c.1286A>G, XM_017007515.3:c.1241A>G, XM_017007515.2:c.1241A>G, XM_017007515.1:c.1241A>G, XM_017007516.2:c.1220A>G, XM_017007516.1:c.1220A>G, XM_017007514.2:c.1265A>G, XM_017007514.1:c.1265A>G, NP_001097.2:p.Asp408Gly, XP_005265640.1:p.Asp429Gly, XP_016863004.1:p.Asp414Gly, XP_016863005.1:p.Asp407Gly, XP_016863003.1:p.Asp422Gly

Select item 145865355613.

rs1458653556 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 3:38478263 (GRCh38)
3:38519754 (GRCh37)
Canonical SPDI:: NC_000003.12:38478262:CCCCCC:CCCCC
Gene:: ACVR2B (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.38478268del, NC_000003.11:g.38519759del, NG_011791.1:g.28970del, NM_001106.4:c.498del, NM_001106.3:c.498del, XM_005265583.4:c.561del, XM_005265583.3:c.561del, XM_005265583.2:c.561del, XM_005265583.1:c.561del, XM_017007515.3:c.516del, XM_017007515.2:c.516del, XM_017007515.1:c.516del, XM_017007516.2:c.495del, XM_017007516.1:c.495del, XM_017007514.2:c.540del, XM_017007514.1:c.540del, NP_001097.2:p.Tyr167fs, XP_005265640.1:p.Tyr188fs, XP_016863004.1:p.Tyr173fs, XP_016863005.1:p.Tyr166fs, XP_016863003.1:p.Tyr181fs

Select item 145593645314.

rs1455936453 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:38479183 (GRCh38)
3:38520674 (GRCh37)
Canonical SPDI:: NC_000003.12:38479182:A:G
Gene:: ACVR2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.38479183A>G, NC_000003.11:g.38520674A>G, NG_011791.1:g.29885A>G, NM_001106.4:c.722A>G, NM_001106.3:c.722A>G, XM_005265583.4:c.785A>G, XM_005265583.3:c.785A>G, XM_005265583.2:c.785A>G, XM_005265583.1:c.785A>G, XM_017007515.3:c.740A>G, XM_017007515.2:c.740A>G, XM_017007515.1:c.740A>G, XM_017007516.2:c.719A>G, XM_017007516.1:c.719A>G, XM_017007514.2:c.764A>G, XM_017007514.1:c.764A>G, NP_001097.2:p.His241Arg, XP_005265640.1:p.His262Arg, XP_016863004.1:p.His247Arg, XP_016863005.1:p.His240Arg, XP_016863003.1:p.His255Arg

Select item 145439549915.

rs1454395499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:38478182 (GRCh38)
3:38519673 (GRCh37)
Canonical SPDI:: NC_000003.12:38478181:G:A
Gene:: ACVR2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.38478182G>A, NC_000003.11:g.38519673G>A, NG_011791.1:g.28884G>A, NM_001106.4:c.412G>A, NM_001106.3:c.412G>A, XM_005265583.4:c.475G>A, XM_005265583.3:c.475G>A, XM_005265583.2:c.475G>A, XM_005265583.1:c.475G>A, XM_017007515.3:c.430G>A, XM_017007515.2:c.430G>A, XM_017007515.1:c.430G>A, XM_017007516.2:c.409G>A, XM_017007516.1:c.409G>A, XM_017007514.2:c.454G>A, XM_017007514.1:c.454G>A, NP_001097.2:p.Val138Met, XP_005265640.1:p.Val159Met, XP_016863004.1:p.Val144Met, XP_016863005.1:p.Val137Met, XP_016863003.1:p.Val152Met

Select item 145383356016.

rs1453833560 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:38481368 (GRCh38)
3:38522859 (GRCh37)
Canonical SPDI:: NC_000003.12:38481367:A:G
Gene:: ACVR2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.38481368A>G, NC_000003.11:g.38522859A>G, NG_011791.1:g.32070A>G, NM_001106.4:c.977A>G, NM_001106.3:c.977A>G, XM_005265583.4:c.1040A>G, XM_005265583.3:c.1040A>G, XM_005265583.2:c.1040A>G, XM_005265583.1:c.1040A>G, XM_017007515.3:c.995A>G, XM_017007515.2:c.995A>G, XM_017007515.1:c.995A>G, XM_017007516.2:c.974A>G, XM_017007516.1:c.974A>G, XM_017007514.2:c.1019A>G, XM_017007514.1:c.1019A>G, NP_001097.2:p.Asn326Ser, XP_005265640.1:p.Asn347Ser, XP_016863004.1:p.Asn332Ser, XP_016863005.1:p.Asn325Ser, XP_016863003.1:p.Asn340Ser

Select item 144930757117.

rs1449307571 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:38479250 (GRCh38)
3:38520741 (GRCh37)
Canonical SPDI:: NC_000003.12:38479249:C:T
Gene:: ACVR2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.38479250C>T, NC_000003.11:g.38520741C>T, NG_011791.1:g.29952C>T, NM_001106.4:c.789C>T, NM_001106.3:c.789C>T, XM_005265583.4:c.852C>T, XM_005265583.3:c.852C>T, XM_005265583.2:c.852C>T, XM_005265583.1:c.852C>T, XM_017007515.3:c.807C>T, XM_017007515.2:c.807C>T, XM_017007515.1:c.807C>T, XM_017007516.2:c.786C>T, XM_017007516.1:c.786C>T, XM_017007514.2:c.831C>T, XM_017007514.1:c.831C>T

Select item 144858598218.

rs1448585982 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:38477435 (GRCh38)
3:38518926 (GRCh37)
Canonical SPDI:: NC_000003.12:38477434:T:A
Gene:: ACVR2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.38477435T>A, NC_000003.11:g.38518926T>A, NG_011791.1:g.28137T>A, NM_001106.4:c.201T>A, NM_001106.3:c.201T>A, XM_005265583.4:c.264T>A, XM_005265583.3:c.264T>A, XM_005265583.2:c.264T>A, XM_005265583.1:c.264T>A, XM_017007515.3:c.219T>A, XM_017007515.2:c.219T>A, XM_017007515.1:c.219T>A, XM_017007516.2:c.198T>A, XM_017007516.1:c.198T>A, XM_017007514.2:c.243T>A, XM_017007514.1:c.243T>A

Select item 144808174519.

rs1448081745 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:38483196 (GRCh38)
3:38524687 (GRCh37)
Canonical SPDI:: NC_000003.12:38483195:G:C
Gene:: ACVR2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000003.12:g.38483196G>C, NC_000003.11:g.38524687G>C, NG_011791.1:g.33898G>C, NM_001106.4:c.1403G>C, NM_001106.3:c.1403G>C, XM_005265583.4:c.1466G>C, XM_005265583.3:c.1466G>C, XM_005265583.2:c.1466G>C, XM_005265583.1:c.1466G>C, XM_017007515.3:c.1421G>C, XM_017007515.2:c.1421G>C, XM_017007515.1:c.1421G>C, XM_017007516.2:c.1400G>C, XM_017007516.1:c.1400G>C, XM_017007514.2:c.1445G>C, XM_017007514.1:c.1445G>C, NP_001097.2:p.Arg468Pro, XP_005265640.1:p.Arg489Pro, XP_016863004.1:p.Arg474Pro, XP_016863005.1:p.Arg467Pro, XP_016863003.1:p.Arg482Pro

Select item 144378557520.

rs1443785575 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:38478475 (GRCh38)
3:38519966 (GRCh37)
Canonical SPDI:: NC_000003.12:38478474:A:G
Gene:: ACVR2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.38478475A>G, NC_000003.11:g.38519966A>G, NG_011791.1:g.29177A>G, NM_001106.4:c.623A>G, NM_001106.3:c.623A>G, XM_005265583.4:c.686A>G, XM_005265583.3:c.686A>G, XM_005265583.2:c.686A>G, XM_005265583.1:c.686A>G, XM_017007515.3:c.641A>G, XM_017007515.2:c.641A>G, XM_017007515.1:c.641A>G, XM_017007516.2:c.620A>G, XM_017007516.1:c.620A>G, XM_017007514.2:c.665A>G, XM_017007514.1:c.665A>G, NP_001097.2:p.Gln208Arg, XP_005265640.1:p.Gln229Arg, XP_016863004.1:p.Gln214Arg, XP_016863005.1:p.Gln207Arg, XP_016863003.1:p.Gln222Arg

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