Canonical Allele Identifier: CA352134879

Gene: ACVR2B

Linked Data

• MyVariant Identifiers: chr3:g.38523996T>A (hg19) ; chr3:g.38482505T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482505T>A , CM000665.2:g.38482505T>A	GRCh38
NC_000003.11:g.38523996T>A , CM000665.1:g.38523996T>A	GRCh37
NC_000003.10:g.38499000T>A	NCBI36
NG_011791.1:g.33207T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.1289T>A MANE Select	ENSP00000340361.3:p.Val430Glu
ENST00000352511.4:c.1289T>A	ENSP00000340361.3:p.Val430Glu
ENST00000461232.1:n.5078T>A
ENST00000465020.5:n.1375T>A
NM_001106.3:c.1289T>A	NP_001097.2:p.Val430Glu
XM_005265583.2:c.1352T>A	XP_005265640.1:p.Val451Glu
XM_005265583.3:c.1352T>A	XP_005265640.1:p.Val451Glu
XM_017007514.1:c.1331T>A	XP_016863003.1:p.Val444Glu
XM_017007515.2:c.1307T>A	XP_016863004.1:p.Val436Glu
XM_017007516.1:c.1286T>A	XP_016863005.1:p.Val429Glu
NM_001106.4:c.1289T>A MANE Select	NP_001097.2:p.Val430Glu