Canonical Allele Identifier: CA10616225

Gene: ACVR2B

Linked Data

• ClinVar Variation Id: 344915
• ClinVar RCV Id: RCV000262997
• dbSNP Id: rs886058385
• gnomAD v4: 3-38477883-G-C
• MyVariant Identifiers: chr3:g.38519374G>C (hg19) ; chr3:g.38477883G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38477883G>C , CM000665.2:g.38477883G>C	GRCh38
NC_000003.11:g.38519374G>C , CM000665.1:g.38519374G>C	GRCh37
NC_000003.10:g.38494378G>C	NCBI36
NG_011791.1:g.28585G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352511.5:c.283G>C MANE Select	ENSP00000340361.3:p.Glu95Gln
ENST00000352511.4:c.283G>C	ENSP00000340361.3:p.Glu95Gln
ENST00000461232.1:n.4072G>C
ENST00000465020.5:n.287G>C
NM_001106.3:c.283G>C	NP_001097.2:p.Glu95Gln
XM_005265583.2:c.346G>C	XP_005265640.1:p.Glu116Gln
XM_005265583.3:c.346G>C	XP_005265640.1:p.Glu116Gln
XM_017007514.1:c.325G>C	XP_016863003.1:p.Glu109Gln
XM_017007515.2:c.301G>C	XP_016863004.1:p.Glu101Gln
XM_017007516.1:c.280G>C	XP_016863005.1:p.Glu94Gln
NM_001106.4:c.283G>C MANE Select	NP_001097.2:p.Glu95Gln