Canonical Allele Identifier: CA352126081

Gene: ACVR2B

Linked Data

• MyVariant Identifiers: chr3:g.38518826C>G (hg19) ; chr3:g.38477335C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38477335C>G , CM000665.2:g.38477335C>G	GRCh38
NC_000003.11:g.38518826C>G , CM000665.1:g.38518826C>G	GRCh37
NC_000003.10:g.38493830C>G	NCBI36
NG_011791.1:g.28037C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000352511.5:c.101C>G MANE Select	ENSP00000340361.3:p.Ala34Gly
ENST00000352511.4:c.101C>G	ENSP00000340361.3:p.Ala34Gly
ENST00000461232.1:n.3890C>G
ENST00000465020.5:n.105C>G
NM_001106.3:c.101C>G	NP_001097.2:p.Ala34Gly
XM_005265583.2:c.164C>G	XP_005265640.1:p.Ala55Gly
XM_005265583.3:c.164C>G	XP_005265640.1:p.Ala55Gly
XM_017007514.1:c.143C>G	XP_016863003.1:p.Ala48Gly
XM_017007515.2:c.119C>G	XP_016863004.1:p.Ala40Gly
XM_017007516.1:c.98C>G	XP_016863005.1:p.Ala33Gly
NM_001106.4:c.101C>G MANE Select	NP_001097.2:p.Ala34Gly