Canonical Allele Identifier: CA433137375

Gene: ACVR2B

Linked Data

• MyVariant Identifiers: chr3:g.38518839G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38477348G>A , CM000665.2:g.38477348G>A	GRCh38
NC_000003.11:g.38518839G>A , CM000665.1:g.38518839G>A	GRCh37
NC_000003.10:g.38493843G>A	NCBI36
NG_011791.1:g.28050G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352511.5:c.114G>A MANE Select	ENSP00000340361.3:p.Leu38=
ENST00000352511.4:c.114G>A	ENSP00000340361.3:p.Leu38=
ENST00000461232.1:n.3903G>A
ENST00000465020.5:n.118G>A
NM_001106.3:c.114G>A	NP_001097.2:p.Leu38=
XM_005265583.2:c.177G>A	XP_005265640.1:p.Leu59=
XM_005265583.3:c.177G>A	XP_005265640.1:p.Leu59=
XM_017007514.1:c.156G>A	XP_016863003.1:p.Leu52=
XM_017007515.2:c.132G>A	XP_016863004.1:p.Leu44=
XM_017007516.1:c.111G>A	XP_016863005.1:p.Leu37=
NM_001106.4:c.114G>A MANE Select	NP_001097.2:p.Leu38=