Canonical Allele Identifier: CA2318921

Gene: ACVR2B

Linked Data

• ClinVar Variation Id: 257469
• ClinVar RCV Id: RCV000253984 ; RCV000624993
• dbSNP Id: rs144849143
• ExAC: 3:38521157 G / A
• gnomAD v2: 3-38521157-G-A
• gnomAD v3: 3-38479666-G-A
• gnomAD v4: 3-38479666-G-A
• MyVariant Identifiers: chr3:g.38521157G>A (hg19) ; chr3:g.38479666G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38479666G>A , CM000665.2:g.38479666G>A	GRCh38
NC_000003.11:g.38521157G>A , CM000665.1:g.38521157G>A	GRCh37
NC_000003.10:g.38496161G>A	NCBI36
NG_011791.1:g.30368G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.811-12G>A MANE Select	ENSP00000340361.3:n.811-12G>A
ENST00000352511.4:c.811-12G>A	ENSP00000340361.3:n.811-12G>A
ENST00000461232.1:n.4600-12G>A
ENST00000465020.5:n.897-12G>A
NM_001106.3:c.811-12G>A	NP_001097.2:n.811-12G>A
XM_005265583.2:c.874-12G>A	XP_005265640.1:n.874-12G>A
XM_005265583.3:c.874-12G>A	XP_005265640.1:n.874-12G>A
XM_017007514.1:c.853-12G>A	XP_016863003.1:n.853-12G>A
XM_017007515.2:c.829-12G>A	XP_016863004.1:n.829-12G>A
XM_017007516.1:c.808-12G>A	XP_016863005.1:n.808-12G>A
NM_001106.4:c.811-12G>A MANE Select	NP_001097.2:n.811-12G>A