Canonical Allele Identifier: CA352134888

Gene: ACVR2B

Linked Data

• gnomAD v4: 3-38482510-G-A
• MyVariant Identifiers: chr3:g.38524001G>A (hg19) ; chr3:g.38482510G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482510G>A , CM000665.2:g.38482510G>A	GRCh38
NC_000003.11:g.38524001G>A , CM000665.1:g.38524001G>A	GRCh37
NC_000003.10:g.38499005G>A	NCBI36
NG_011791.1:g.33212G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.1294G>A MANE Select	ENSP00000340361.3:p.Val432Met
ENST00000352511.4:c.1294G>A	ENSP00000340361.3:p.Val432Met
ENST00000461232.1:n.5083G>A
ENST00000465020.5:n.1380G>A
NM_001106.3:c.1294G>A	NP_001097.2:p.Val432Met
XM_005265583.2:c.1357G>A	XP_005265640.1:p.Val453Met
XM_005265583.3:c.1357G>A	XP_005265640.1:p.Val453Met
XM_017007514.1:c.1336G>A	XP_016863003.1:p.Val446Met
XM_017007515.2:c.1312G>A	XP_016863004.1:p.Val438Met
XM_017007516.1:c.1291G>A	XP_016863005.1:p.Val431Met
NM_001106.4:c.1294G>A MANE Select	NP_001097.2:p.Val432Met