Canonical Allele Identifier: CA433138610
Gene: ACVR2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.38522842G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38481351G>A , CM000665.2:g.38481351G>A GRCh38
NC_000003.11:g.38522842G>A , CM000665.1:g.38522842G>A GRCh37
NC_000003.10:g.38497846G>A NCBI36
NG_011791.1:g.32053G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352511.5:c.960G>A MANE Select ENSP00000340361.3:p.Arg320=
ENST00000352511.4:c.960G>A ENSP00000340361.3:p.Arg320=
ENST00000461232.1:n.4749G>A
ENST00000465020.5:n.1046G>A
NM_001106.3:c.960G>A NP_001097.2:p.Arg320=
XM_005265583.2:c.1023G>A XP_005265640.1:p.Arg341=
XM_005265583.3:c.1023G>A XP_005265640.1:p.Arg341=
XM_017007514.1:c.1002G>A XP_016863003.1:p.Arg334=
XM_017007515.2:c.978G>A XP_016863004.1:p.Arg326=
XM_017007516.1:c.957G>A XP_016863005.1:p.Arg319=
NM_001106.4:c.960G>A MANE Select NP_001097.2:p.Arg320=