Canonical Allele Identifier: CA352134762

Gene: ACVR2B

Linked Data

• MyVariant Identifiers: chr3:g.38523947T>A (hg19) ; chr3:g.38482456T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482456T>A , CM000665.2:g.38482456T>A	GRCh38
NC_000003.11:g.38523947T>A , CM000665.1:g.38523947T>A	GRCh37
NC_000003.10:g.38498951T>A	NCBI36
NG_011791.1:g.33158T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.1240T>A MANE Select	ENSP00000340361.3:p.Phe414Ile
ENST00000352511.4:c.1240T>A	ENSP00000340361.3:p.Phe414Ile
ENST00000461232.1:n.5029T>A
ENST00000465020.5:n.1326T>A
NM_001106.3:c.1240T>A	NP_001097.2:p.Phe414Ile
XM_005265583.2:c.1303T>A	XP_005265640.1:p.Phe435Ile
XM_005265583.3:c.1303T>A	XP_005265640.1:p.Phe435Ile
XM_017007514.1:c.1282T>A	XP_016863003.1:p.Phe428Ile
XM_017007515.2:c.1258T>A	XP_016863004.1:p.Phe420Ile
XM_017007516.1:c.1237T>A	XP_016863005.1:p.Phe413Ile
NM_001106.4:c.1240T>A MANE Select	NP_001097.2:p.Phe414Ile