Canonical Allele Identifier: CA1037621892

Gene: ACVR2A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.147854905_147854906insTTTTT , CM000664.2:g.147854905_147854906insTTTTT	GRCh38
NC_000002.11:g.148612474_148612475insTTTTT , CM000664.1:g.148612474_148612475insTTTTT	GRCh37
NC_000002.10:g.148328944_148328945insTTTTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241416.12:c.55+9698_55+9699insTTTTT MANE Select	ENSP00000241416.7:n.55+9698_55+9699insTTTTT
ENST00000241416.11:c.55+9698_55+9699insTTTTT	ENSP00000241416.7:n.55+9698_55+9699insTTTTT
ENST00000404590.1:c.55+9698_55+9699insTTTTT	ENSP00000384338.1:n.55+9698_55+9699insTTTTT
ENST00000462659.1:n.183+10199_183+10200insTTTTT
ENST00000465329.1:n.179+9698_179+9699insTTTTT
ENST00000487959.5:n.190+10199_190+10200insTTTTT
ENST00000535787.5:c.-207+10199_-207+10200insTTTTT	ENSP00000439988.1:n.-207+10199_-207+10200insTTTTT
NM_001278579.1:c.55+9698_55+9699insTTTTT	NP_001265508.1:n.55+9698_55+9699insTTTTT
NM_001278580.1:c.-207+10199_-207+10200insTTTTT	NP_001265509.1:n.-207+10199_-207+10200insTTTTT
NM_001616.4:c.55+9698_55+9699insTTTTT	NP_001607.1:n.55+9698_55+9699insTTTTT
XM_005263843.2:c.55+9698_55+9699insTTTTT	XP_005263900.1:n.55+9698_55+9699insTTTTT
NM_001616.5:c.55+9698_55+9699insTTTTT MANE Select	NP_001607.1:n.55+9698_55+9699insTTTTT
NM_001278579.2:c.55+9698_55+9699insTTTTT	NP_001265508.1:n.55+9698_55+9699insTTTTT
NM_001278580.2:c.-207+10199_-207+10200insTTTTT	NP_001265509.1:n.-207+10199_-207+10200insTTTTT