Canonical Allele Identifier: CA2577552519

Gene: ACVR2B

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482416T>A , CM000665.2:g.38482416T>A	GRCh38
NC_000003.11:g.38523907T>A , CM000665.1:g.38523907T>A	GRCh37
NC_000003.10:g.38498911T>A	NCBI36
NG_011791.1:g.33118T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.1214-14T>A MANE Select	ENSP00000340361.3:n.1214-14T>A
ENST00000352511.4:c.1214-14T>A	ENSP00000340361.3:n.1214-14T>A
ENST00000461232.1:n.5003-14T>A
ENST00000465020.5:n.1300-14T>A
NM_001106.3:c.1214-14T>A	NP_001097.2:n.1214-14T>A
XM_005265583.2:c.1277-14T>A	XP_005265640.1:n.1277-14T>A
XM_005265583.3:c.1277-14T>A	XP_005265640.1:n.1277-14T>A
XM_017007514.1:c.1256-14T>A	XP_016863003.1:n.1256-14T>A
XM_017007515.2:c.1232-14T>A	XP_016863004.1:n.1232-14T>A
XM_017007516.1:c.1211-14T>A	XP_016863005.1:n.1211-14T>A
NM_001106.4:c.1214-14T>A MANE Select	NP_001097.2:n.1214-14T>A