Canonical Allele Identifier: CA2319001

Gene: ACVR2B

Linked Data

• dbSNP Id: rs368450103
• ExAC: 3:38523805 G / C
• gnomAD v2: 3-38523805-G-C
• gnomAD v3: 3-38482314-G-C
• gnomAD v4: 3-38482314-G-C
• MyVariant Identifiers: chr3:g.38523805G>C (hg19) ; chr3:g.38482314G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482314G>C , CM000665.2:g.38482314G>C	GRCh38
NC_000003.11:g.38523805G>C , CM000665.1:g.38523805G>C	GRCh37
NC_000003.10:g.38498809G>C	NCBI36
NG_011791.1:g.33016G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.1191G>C MANE Select	ENSP00000340361.3:p.Val397=
ENST00000352511.4:c.1191G>C	ENSP00000340361.3:p.Val397=
ENST00000461232.1:n.4980G>C
ENST00000465020.5:n.1277G>C
NM_001106.3:c.1191G>C	NP_001097.2:p.Val397=
XM_005265583.2:c.1254G>C	XP_005265640.1:p.Val418=
XM_005265583.3:c.1254G>C	XP_005265640.1:p.Val418=
XM_017007514.1:c.1233G>C	XP_016863003.1:p.Val411=
XM_017007515.2:c.1209G>C	XP_016863004.1:p.Val403=
XM_017007516.1:c.1188G>C	XP_016863005.1:p.Val396=
NM_001106.4:c.1191G>C MANE Select	NP_001097.2:p.Val397=