Canonical Allele Identifier: CA2319045

Gene: ACVR2B

Linked Data

• dbSNP Id: rs776494725
• ExAC: 3:38524003 G / A
• gnomAD v2: 3-38524003-G-A
• gnomAD v3: 3-38482512-G-A
• gnomAD v4: 3-38482512-G-A
• MyVariant Identifiers: chr3:g.38524003G>A (hg19) ; chr3:g.38482512G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482512G>A , CM000665.2:g.38482512G>A	GRCh38
NC_000003.11:g.38524003G>A , CM000665.1:g.38524003G>A	GRCh37
NC_000003.10:g.38499007G>A	NCBI36
NG_011791.1:g.33214G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.1296G>A MANE Select	ENSP00000340361.3:p.Val432=
ENST00000352511.4:c.1296G>A	ENSP00000340361.3:p.Val432=
ENST00000461232.1:n.5085G>A
ENST00000465020.5:n.1382G>A
NM_001106.3:c.1296G>A	NP_001097.2:p.Val432=
XM_005265583.2:c.1359G>A	XP_005265640.1:p.Val453=
XM_005265583.3:c.1359G>A	XP_005265640.1:p.Val453=
XM_017007514.1:c.1338G>A	XP_016863003.1:p.Val446=
XM_017007515.2:c.1314G>A	XP_016863004.1:p.Val438=
XM_017007516.1:c.1293G>A	XP_016863005.1:p.Val431=
NM_001106.4:c.1296G>A MANE Select	NP_001097.2:p.Val432=