Canonical Allele Identifier: CA1047002583
Gene: ACVR2B HGNC NCBI

Linked Data

dbSNP Id: rs1709696417
gnomAD v3: 3-38464378-T-A
gnomAD v4: 3-38464378-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38464378T>A , CM000665.2:g.38464378T>A GRCh38
NC_000003.11:g.38505869T>A , CM000665.1:g.38505869T>A GRCh37
NC_000003.10:g.38480873T>A NCBI36
NG_011791.1:g.15080T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000352511.5:c.52+10004T>A MANE Select ENSP00000340361.3:n.52+10004T>A
ENST00000352511.4:c.52+10004T>A ENSP00000340361.3:n.52+10004T>A
ENST00000465020.5:n.56+10004T>A
NM_001106.3:c.52+10004T>A NP_001097.2:n.52+10004T>A
XM_005265583.2:c.115+4689T>A XP_005265640.1:n.115+4689T>A
XM_005265583.3:c.115+4689T>A XP_005265640.1:n.115+4689T>A
XM_017007514.1:c.94+4710T>A XP_016863003.1:n.94+4710T>A
XM_017007515.2:c.70+9694T>A XP_016863004.1:n.70+9694T>A
NM_001106.4:c.52+10004T>A MANE Select NP_001097.2:n.52+10004T>A
Search 100 bp 5'
Search 100 bp 3'