Canonical Allele Identifier: CA433138888

Gene: ACVR2B

Linked Data

• dbSNP Id: rs1210550576
• gnomAD v2: 3-38523811-C-T
• gnomAD v4: 3-38482320-C-T
• MyVariant Identifiers: chr3:g.38523811C>T (hg19) ; chr3:g.38482320C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482320C>T , CM000665.2:g.38482320C>T	GRCh38
NC_000003.11:g.38523811C>T , CM000665.1:g.38523811C>T	GRCh37
NC_000003.10:g.38498815C>T	NCBI36
NG_011791.1:g.33022C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.1197C>T MANE Select	ENSP00000340361.3:p.Arg399=
ENST00000352511.4:c.1197C>T	ENSP00000340361.3:p.Arg399=
ENST00000461232.1:n.4986C>T
ENST00000465020.5:n.1283C>T
NM_001106.3:c.1197C>T	NP_001097.2:p.Arg399=
XM_005265583.2:c.1260C>T	XP_005265640.1:p.Arg420=
XM_005265583.3:c.1260C>T	XP_005265640.1:p.Arg420=
XM_017007514.1:c.1239C>T	XP_016863003.1:p.Arg413=
XM_017007515.2:c.1215C>T	XP_016863004.1:p.Arg405=
XM_017007516.1:c.1194C>T	XP_016863005.1:p.Arg398=
NM_001106.4:c.1197C>T MANE Select	NP_001097.2:p.Arg399=