Canonical Allele Identifier: CA352132954

Gene: ACVR2B

Linked Data

• gnomAD v4: 3-38481353-A-T
• MyVariant Identifiers: chr3:g.38522844A>T (hg19) ; chr3:g.38481353A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38481353A>T , CM000665.2:g.38481353A>T	GRCh38
NC_000003.11:g.38522844A>T , CM000665.1:g.38522844A>T	GRCh37
NC_000003.10:g.38497848A>T	NCBI36
NG_011791.1:g.32055A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.962A>T MANE Select	ENSP00000340361.3:p.Asp321Val
ENST00000352511.4:c.962A>T	ENSP00000340361.3:p.Asp321Val
ENST00000461232.1:n.4751A>T
ENST00000465020.5:n.1048A>T
NM_001106.3:c.962A>T	NP_001097.2:p.Asp321Val
XM_005265583.2:c.1025A>T	XP_005265640.1:p.Asp342Val
XM_005265583.3:c.1025A>T	XP_005265640.1:p.Asp342Val
XM_017007514.1:c.1004A>T	XP_016863003.1:p.Asp335Val
XM_017007515.2:c.980A>T	XP_016863004.1:p.Asp327Val
XM_017007516.1:c.959A>T	XP_016863005.1:p.Asp320Val
NM_001106.4:c.962A>T MANE Select	NP_001097.2:p.Asp321Val