Canonical Allele Identifier: CA2665095254
Gene: ACVR2B HGNC NCBI

Linked Data

gnomAD v4: 3-38481241-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38481241A>G , CM000665.2:g.38481241A>G GRCh38
NC_000003.11:g.38522732A>G , CM000665.1:g.38522732A>G GRCh37
NC_000003.10:g.38497736A>G NCBI36
NG_011791.1:g.31943A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000352511.5:c.960-110A>G MANE Select ENSP00000340361.3:n.960-110A>G
ENST00000352511.4:c.960-110A>G ENSP00000340361.3:n.960-110A>G
ENST00000461232.1:n.4749-110A>G
ENST00000465020.5:n.1046-110A>G
NM_001106.3:c.960-110A>G NP_001097.2:n.960-110A>G
XM_005265583.2:c.1023-110A>G XP_005265640.1:n.1023-110A>G
XM_005265583.3:c.1023-110A>G XP_005265640.1:n.1023-110A>G
XM_017007514.1:c.1002-110A>G XP_016863003.1:n.1002-110A>G
XM_017007515.2:c.978-110A>G XP_016863004.1:n.978-110A>G
XM_017007516.1:c.957-110A>G XP_016863005.1:n.957-110A>G
NM_001106.4:c.960-110A>G MANE Select NP_001097.2:n.960-110A>G