Canonical Allele Identifier: CA2319017

Gene: ACVR2B

Linked Data

• dbSNP Id: rs768941474
• ExAC: 3:38523888 G / A
• gnomAD v2: 3-38523888-G-A
• gnomAD v4: 3-38482397-G-A
• MyVariant Identifiers: chr3:g.38523888G>A (hg19) ; chr3:g.38482397G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482397G>A , CM000665.2:g.38482397G>A	GRCh38
NC_000003.11:g.38523888G>A , CM000665.1:g.38523888G>A	GRCh37
NC_000003.10:g.38498892G>A	NCBI36
NG_011791.1:g.33099G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352511.5:c.1214-33G>A MANE Select	ENSP00000340361.3:n.1214-33G>A
ENST00000352511.4:c.1214-33G>A	ENSP00000340361.3:n.1214-33G>A
ENST00000461232.1:n.5003-33G>A
ENST00000465020.5:n.1300-33G>A
NM_001106.3:c.1214-33G>A	NP_001097.2:n.1214-33G>A
XM_005265583.2:c.1277-33G>A	XP_005265640.1:n.1277-33G>A
XM_005265583.3:c.1277-33G>A	XP_005265640.1:n.1277-33G>A
XM_017007514.1:c.1256-33G>A	XP_016863003.1:n.1256-33G>A
XM_017007515.2:c.1232-33G>A	XP_016863004.1:n.1232-33G>A
XM_017007516.1:c.1211-33G>A	XP_016863005.1:n.1211-33G>A
NM_001106.4:c.1214-33G>A MANE Select	NP_001097.2:n.1214-33G>A