Canonical Allele Identifier: CA1358522781
Gene: ACVR2B HGNC NCBI

Linked Data

dbSNP Id: rs34005734

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38464472del , CM000665.2:g.38464472del GRCh38
NC_000003.11:g.38505963del , CM000665.1:g.38505963del GRCh37
NC_000003.10:g.38480967del NCBI36
NG_011791.1:g.15174del

Transcript Alleles

HGVS Amino-acid Change
ENST00000352511.5:c.52+10098del MANE Select ENSP00000340361.3:n.52+10098del
ENST00000352511.4:c.52+10098del ENSP00000340361.3:n.52+10098del
ENST00000465020.5:n.56+10098del
NM_001106.3:c.52+10098del NP_001097.2:n.52+10098del
XM_005265583.2:c.115+4783del XP_005265640.1:n.115+4783del
XM_005265583.3:c.115+4783del XP_005265640.1:n.115+4783del
XM_017007514.1:c.94+4804del XP_016863003.1:n.94+4804del
XM_017007515.2:c.70+9788del XP_016863004.1:n.70+9788del
NM_001106.4:c.52+10098del MANE Select NP_001097.2:n.52+10098del