Canonical Allele Identifier: CA72914414
Gene: ACVR2B HGNC NCBI

Linked Data

dbSNP Id: rs1052842078
gnomAD v3: 3-38464389-G-T
gnomAD v4: 3-38464389-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38464389G>T , CM000665.2:g.38464389G>T GRCh38
NC_000003.11:g.38505880G>T , CM000665.1:g.38505880G>T GRCh37
NC_000003.10:g.38480884G>T NCBI36
NG_011791.1:g.15091G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000352511.5:c.52+10015G>T MANE Select ENSP00000340361.3:n.52+10015G>T
ENST00000352511.4:c.52+10015G>T ENSP00000340361.3:n.52+10015G>T
ENST00000465020.5:n.56+10015G>T
NM_001106.3:c.52+10015G>T NP_001097.2:n.52+10015G>T
XM_005265583.2:c.115+4700G>T XP_005265640.1:n.115+4700G>T
XM_005265583.3:c.115+4700G>T XP_005265640.1:n.115+4700G>T
XM_017007514.1:c.94+4721G>T XP_016863003.1:n.94+4721G>T
XM_017007515.2:c.70+9705G>T XP_016863004.1:n.70+9705G>T
NM_001106.4:c.52+10015G>T MANE Select NP_001097.2:n.52+10015G>T