Canonical Allele Identifier: CA1296492003

Gene: ACVR2A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.147854547_147854548delinsAT , CM000664.2:g.147854547_147854548delinsAT	GRCh38
NC_000002.11:g.148612116_148612117delinsAT , CM000664.1:g.148612116_148612117delinsAT	GRCh37
NC_000002.10:g.148328586_148328587delinsAT	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000241416.12:c.55+9340_55+9341delinsAT MANE Select	ENSP00000241416.7:n.55+9340_55+9341delinsAT
ENST00000241416.11:c.55+9340_55+9341delinsAT	ENSP00000241416.7:n.55+9340_55+9341delinsAT
ENST00000404590.1:c.55+9340_55+9341delinsAT	ENSP00000384338.1:n.55+9340_55+9341delinsAT
ENST00000462659.1:n.183+9841_183+9842delinsAT
ENST00000465329.1:n.179+9340_179+9341delinsAT
ENST00000487959.5:n.190+9841_190+9842delinsAT
ENST00000535787.5:c.-207+9841_-207+9842delinsAT	ENSP00000439988.1:n.-207+9841_-207+9842delinsAT
NM_001278579.1:c.55+9340_55+9341delinsAT	NP_001265508.1:n.55+9340_55+9341delinsAT
NM_001278580.1:c.-207+9841_-207+9842delinsAT	NP_001265509.1:n.-207+9841_-207+9842delinsAT
NM_001616.4:c.55+9340_55+9341delinsAT	NP_001607.1:n.55+9340_55+9341delinsAT
XM_005263843.2:c.55+9340_55+9341delinsAT	XP_005263900.1:n.55+9340_55+9341delinsAT
NM_001616.5:c.55+9340_55+9341delinsAT MANE Select	NP_001607.1:n.55+9340_55+9341delinsAT
NM_001278579.2:c.55+9340_55+9341delinsAT	NP_001265508.1:n.55+9340_55+9341delinsAT
NM_001278580.2:c.-207+9841_-207+9842delinsAT	NP_001265509.1:n.-207+9841_-207+9842delinsAT