Canonical Allele Identifier: CA2665095724
Gene: ACVR2B HGNC NCBI

Linked Data

gnomAD v4: 3-38482398-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38482398A>G , CM000665.2:g.38482398A>G GRCh38
NC_000003.11:g.38523889A>G , CM000665.1:g.38523889A>G GRCh37
NC_000003.10:g.38498893A>G NCBI36
NG_011791.1:g.33100A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000352511.5:c.1214-32A>G MANE Select ENSP00000340361.3:n.1214-32A>G
ENST00000352511.4:c.1214-32A>G ENSP00000340361.3:n.1214-32A>G
ENST00000461232.1:n.5003-32A>G
ENST00000465020.5:n.1300-32A>G
NM_001106.3:c.1214-32A>G NP_001097.2:n.1214-32A>G
XM_005265583.2:c.1277-32A>G XP_005265640.1:n.1277-32A>G
XM_005265583.3:c.1277-32A>G XP_005265640.1:n.1277-32A>G
XM_017007514.1:c.1256-32A>G XP_016863003.1:n.1256-32A>G
XM_017007515.2:c.1232-32A>G XP_016863004.1:n.1232-32A>G
XM_017007516.1:c.1211-32A>G XP_016863005.1:n.1211-32A>G
NM_001106.4:c.1214-32A>G MANE Select NP_001097.2:n.1214-32A>G