Canonical Allele Identifier: CA433137370
Gene: ACVR2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.38518827C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38477336C>A , CM000665.2:g.38477336C>A GRCh38
NC_000003.11:g.38518827C>A , CM000665.1:g.38518827C>A GRCh37
NC_000003.10:g.38493831C>A NCBI36
NG_011791.1:g.28038C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000352511.5:c.102C>A MANE Select ENSP00000340361.3:p.Ala34=
ENST00000352511.4:c.102C>A ENSP00000340361.3:p.Ala34=
ENST00000461232.1:n.3891C>A
ENST00000465020.5:n.106C>A
NM_001106.3:c.102C>A NP_001097.2:p.Ala34=
XM_005265583.2:c.165C>A XP_005265640.1:p.Ala55=
XM_005265583.3:c.165C>A XP_005265640.1:p.Ala55=
XM_017007514.1:c.144C>A XP_016863003.1:p.Ala48=
XM_017007515.2:c.120C>A XP_016863004.1:p.Ala40=
XM_017007516.1:c.99C>A XP_016863005.1:p.Ala33=
NM_001106.4:c.102C>A MANE Select NP_001097.2:p.Ala34=