Canonical Allele Identifier: CA352134864

Gene: ACVR2B

Linked Data

• dbSNP Id: rs1424812164
• gnomAD v2: 3-38523990-A-C
• gnomAD v4: 3-38482499-A-C
• MyVariant Identifiers: chr3:g.38523990A>C (hg19) ; chr3:g.38482499A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482499A>C , CM000665.2:g.38482499A>C	GRCh38
NC_000003.11:g.38523990A>C , CM000665.1:g.38523990A>C	GRCh37
NC_000003.10:g.38498994A>C	NCBI36
NG_011791.1:g.33201A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.1283A>C MANE Select	ENSP00000340361.3:p.Gln428Pro
ENST00000352511.4:c.1283A>C	ENSP00000340361.3:p.Gln428Pro
ENST00000461232.1:n.5072A>C
ENST00000465020.5:n.1369A>C
NM_001106.3:c.1283A>C	NP_001097.2:p.Gln428Pro
XM_005265583.2:c.1346A>C	XP_005265640.1:p.Gln449Pro
XM_005265583.3:c.1346A>C	XP_005265640.1:p.Gln449Pro
XM_017007514.1:c.1325A>C	XP_016863003.1:p.Gln442Pro
XM_017007515.2:c.1301A>C	XP_016863004.1:p.Gln434Pro
XM_017007516.1:c.1280A>C	XP_016863005.1:p.Gln427Pro
NM_001106.4:c.1283A>C MANE Select	NP_001097.2:p.Gln428Pro