Canonical Allele Identifier: CA352134845

Gene: ACVR2B

Linked Data

• MyVariant Identifiers: chr3:g.38523982G>C (hg19) ; chr3:g.38482491G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482491G>C , CM000665.2:g.38482491G>C	GRCh38
NC_000003.11:g.38523982G>C , CM000665.1:g.38523982G>C	GRCh37
NC_000003.10:g.38498986G>C	NCBI36
NG_011791.1:g.33193G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.1275G>C MANE Select	ENSP00000340361.3:p.Glu425Asp
ENST00000352511.4:c.1275G>C	ENSP00000340361.3:p.Glu425Asp
ENST00000461232.1:n.5064G>C
ENST00000465020.5:n.1361G>C
NM_001106.3:c.1275G>C	NP_001097.2:p.Glu425Asp
XM_005265583.2:c.1338G>C	XP_005265640.1:p.Glu446Asp
XM_005265583.3:c.1338G>C	XP_005265640.1:p.Glu446Asp
XM_017007514.1:c.1317G>C	XP_016863003.1:p.Glu439Asp
XM_017007515.2:c.1293G>C	XP_016863004.1:p.Glu431Asp
XM_017007516.1:c.1272G>C	XP_016863005.1:p.Glu424Asp
NM_001106.4:c.1275G>C MANE Select	NP_001097.2:p.Glu425Asp