Canonical Allele Identifier: CA352132955

Gene: ACVR2B

Linked Data

• MyVariant Identifiers: chr3:g.38522845C>A (hg19) ; chr3:g.38481354C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38481354C>A , CM000665.2:g.38481354C>A	GRCh38
NC_000003.11:g.38522845C>A , CM000665.1:g.38522845C>A	GRCh37
NC_000003.10:g.38497849C>A	NCBI36
NG_011791.1:g.32056C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.963C>A MANE Select	ENSP00000340361.3:p.Asp321Glu
ENST00000352511.4:c.963C>A	ENSP00000340361.3:p.Asp321Glu
ENST00000461232.1:n.4752C>A
ENST00000465020.5:n.1049C>A
NM_001106.3:c.963C>A	NP_001097.2:p.Asp321Glu
XM_005265583.2:c.1026C>A	XP_005265640.1:p.Asp342Glu
XM_005265583.3:c.1026C>A	XP_005265640.1:p.Asp342Glu
XM_017007514.1:c.1005C>A	XP_016863003.1:p.Asp335Glu
XM_017007515.2:c.981C>A	XP_016863004.1:p.Asp327Glu
XM_017007516.1:c.960C>A	XP_016863005.1:p.Asp320Glu
NM_001106.4:c.963C>A MANE Select	NP_001097.2:p.Asp321Glu