Canonical Allele Identifier: CA433138914

Gene: ACVR2B

Linked Data

• MyVariant Identifiers: chr3:g.38523952G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482461G>A , CM000665.2:g.38482461G>A	GRCh38
NC_000003.11:g.38523952G>A , CM000665.1:g.38523952G>A	GRCh37
NC_000003.10:g.38498956G>A	NCBI36
NG_011791.1:g.33163G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.1245G>A MANE Select	ENSP00000340361.3:p.Glu415=
ENST00000352511.4:c.1245G>A	ENSP00000340361.3:p.Glu415=
ENST00000461232.1:n.5034G>A
ENST00000465020.5:n.1331G>A
NM_001106.3:c.1245G>A	NP_001097.2:p.Glu415=
XM_005265583.2:c.1308G>A	XP_005265640.1:p.Glu436=
XM_005265583.3:c.1308G>A	XP_005265640.1:p.Glu436=
XM_017007514.1:c.1287G>A	XP_016863003.1:p.Glu429=
XM_017007515.2:c.1263G>A	XP_016863004.1:p.Glu421=
XM_017007516.1:c.1242G>A	XP_016863005.1:p.Glu414=
NM_001106.4:c.1245G>A MANE Select	NP_001097.2:p.Glu415=