Canonical Allele Identifier: CA2318954

Gene: ACVR2B

Linked Data

• dbSNP Id: rs746804204
• ExAC: 3:38522799 G / A
• gnomAD v2: 3-38522799-G-A
• gnomAD v4: 3-38481308-G-A
• MyVariant Identifiers: chr3:g.38522799G>A (hg19) ; chr3:g.38481308G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38481308G>A , CM000665.2:g.38481308G>A	GRCh38
NC_000003.11:g.38522799G>A , CM000665.1:g.38522799G>A	GRCh37
NC_000003.10:g.38497803G>A	NCBI36
NG_011791.1:g.32010G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.960-43G>A MANE Select	ENSP00000340361.3:n.960-43G>A
ENST00000352511.4:c.960-43G>A	ENSP00000340361.3:n.960-43G>A
ENST00000461232.1:n.4749-43G>A
ENST00000465020.5:n.1046-43G>A
NM_001106.3:c.960-43G>A	NP_001097.2:n.960-43G>A
XM_005265583.2:c.1023-43G>A	XP_005265640.1:n.1023-43G>A
XM_005265583.3:c.1023-43G>A	XP_005265640.1:n.1023-43G>A
XM_017007514.1:c.1002-43G>A	XP_016863003.1:n.1002-43G>A
XM_017007515.2:c.978-43G>A	XP_016863004.1:n.978-43G>A
XM_017007516.1:c.957-43G>A	XP_016863005.1:n.957-43G>A
NM_001106.4:c.960-43G>A MANE Select	NP_001097.2:n.960-43G>A