Canonical Allele Identifier: CA1296492128

Gene: ACVR2A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.147854839_147854841delinsCTT , CM000664.2:g.147854839_147854841delinsCTT	GRCh38
NC_000002.11:g.148612408_148612410delinsCTT , CM000664.1:g.148612408_148612410delinsCTT	GRCh37
NC_000002.10:g.148328878_148328880delinsCTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241416.12:c.55+9632_55+9634delinsCTT MANE Select	ENSP00000241416.7:n.55+9632_55+9634delinsCTT
ENST00000241416.11:c.55+9632_55+9634delinsCTT	ENSP00000241416.7:n.55+9632_55+9634delinsCTT
ENST00000404590.1:c.55+9632_55+9634delinsCTT	ENSP00000384338.1:n.55+9632_55+9634delinsCTT
ENST00000462659.1:n.183+10133_183+10135delinsCTT
ENST00000465329.1:n.179+9632_179+9634delinsCTT
ENST00000487959.5:n.190+10133_190+10135delinsCTT
ENST00000535787.5:c.-207+10133_-207+10135delinsCTT	ENSP00000439988.1:n.-207+10133_-207+10135delinsCTT
NM_001278579.1:c.55+9632_55+9634delinsCTT	NP_001265508.1:n.55+9632_55+9634delinsCTT
NM_001278580.1:c.-207+10133_-207+10135delinsCTT	NP_001265509.1:n.-207+10133_-207+10135delinsCTT
NM_001616.4:c.55+9632_55+9634delinsCTT	NP_001607.1:n.55+9632_55+9634delinsCTT
XM_005263843.2:c.55+9632_55+9634delinsCTT	XP_005263900.1:n.55+9632_55+9634delinsCTT
NM_001616.5:c.55+9632_55+9634delinsCTT MANE Select	NP_001607.1:n.55+9632_55+9634delinsCTT
NM_001278579.2:c.55+9632_55+9634delinsCTT	NP_001265508.1:n.55+9632_55+9634delinsCTT
NM_001278580.2:c.-207+10133_-207+10135delinsCTT	NP_001265509.1:n.-207+10133_-207+10135delinsCTT