Canonical Allele Identifier: CA1296492154

Gene: ACVR2A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.147854887_147854889delinsTTC , CM000664.2:g.147854887_147854889delinsTTC	GRCh38
NC_000002.11:g.148612456_148612458delinsTTC , CM000664.1:g.148612456_148612458delinsTTC	GRCh37
NC_000002.10:g.148328926_148328928delinsTTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241416.12:c.55+9680_55+9682delinsTTC MANE Select	ENSP00000241416.7:n.55+9680_55+9682delinsTTC
ENST00000241416.11:c.55+9680_55+9682delinsTTC	ENSP00000241416.7:n.55+9680_55+9682delinsTTC
ENST00000404590.1:c.55+9680_55+9682delinsTTC	ENSP00000384338.1:n.55+9680_55+9682delinsTTC
ENST00000462659.1:n.183+10181_183+10183delinsTTC
ENST00000465329.1:n.179+9680_179+9682delinsTTC
ENST00000487959.5:n.190+10181_190+10183delinsTTC
ENST00000535787.5:c.-207+10181_-207+10183delinsTTC	ENSP00000439988.1:n.-207+10181_-207+10183delinsTTC
NM_001278579.1:c.55+9680_55+9682delinsTTC	NP_001265508.1:n.55+9680_55+9682delinsTTC
NM_001278580.1:c.-207+10181_-207+10183delinsTTC	NP_001265509.1:n.-207+10181_-207+10183delinsTTC
NM_001616.4:c.55+9680_55+9682delinsTTC	NP_001607.1:n.55+9680_55+9682delinsTTC
XM_005263843.2:c.55+9680_55+9682delinsTTC	XP_005263900.1:n.55+9680_55+9682delinsTTC
NM_001616.5:c.55+9680_55+9682delinsTTC MANE Select	NP_001607.1:n.55+9680_55+9682delinsTTC
NM_001278579.2:c.55+9680_55+9682delinsTTC	NP_001265508.1:n.55+9680_55+9682delinsTTC
NM_001278580.2:c.-207+10181_-207+10183delinsTTC	NP_001265509.1:n.-207+10181_-207+10183delinsTTC