Canonical Allele Identifier: CA1296492087
Gene: ACVR2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.147854754T= , CM000664.2:g.147854754T= GRCh38
NC_000002.11:g.148612323T= , CM000664.1:g.148612323T= GRCh37
NC_000002.10:g.148328793T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000241416.12:c.55+9547T= MANE Select ENSP00000241416.7:n.55+9547T=
ENST00000241416.11:c.55+9547T= ENSP00000241416.7:n.55+9547T=
ENST00000404590.1:c.55+9547T= ENSP00000384338.1:n.55+9547T=
ENST00000462659.1:n.183+10048T=
ENST00000465329.1:n.179+9547T=
ENST00000487959.5:n.190+10048T=
ENST00000535787.5:c.-207+10048T= ENSP00000439988.1:n.-207+10048T=
NM_001278579.1:c.55+9547T= NP_001265508.1:n.55+9547T=
NM_001278580.1:c.-207+10048T= NP_001265509.1:n.-207+10048T=
NM_001616.4:c.55+9547T= NP_001607.1:n.55+9547T=
XM_005263843.2:c.55+9547T= XP_005263900.1:n.55+9547T=
NM_001616.5:c.55+9547T= MANE Select NP_001607.1:n.55+9547T=
NM_001278579.2:c.55+9547T= NP_001265508.1:n.55+9547T=
NM_001278580.2:c.-207+10048T= NP_001265509.1:n.-207+10048T=