Canonical Allele Identifier: CA2566648465
Gene: ACVR2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38482360C>A , CM000665.2:g.38482360C>A GRCh38
NC_000003.11:g.38523851C>A , CM000665.1:g.38523851C>A GRCh37
NC_000003.10:g.38498855C>A NCBI36
NG_011791.1:g.33062C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352511.5:c.1213+24C>A MANE Select ENSP00000340361.3:n.1213+24C>A
ENST00000352511.4:c.1213+24C>A ENSP00000340361.3:n.1213+24C>A
ENST00000461232.1:n.5002+24C>A
ENST00000465020.5:n.1299+24C>A
NM_001106.3:c.1213+24C>A NP_001097.2:n.1213+24C>A
XM_005265583.2:c.1276+24C>A XP_005265640.1:n.1276+24C>A
XM_005265583.3:c.1276+24C>A XP_005265640.1:n.1276+24C>A
XM_017007514.1:c.1255+24C>A XP_016863003.1:n.1255+24C>A
XM_017007515.2:c.1231+24C>A XP_016863004.1:n.1231+24C>A
XM_017007516.1:c.1210+24C>A XP_016863005.1:n.1210+24C>A
NM_001106.4:c.1213+24C>A MANE Select NP_001097.2:n.1213+24C>A