Canonical Allele Identifier: CA2487035648

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236718750_236718751delinsAT , CM000663.2:g.236718750_236718751delinsAT	GRCh38
NC_000001.10:g.236882050_236882051delinsAT , CM000663.1:g.236882050_236882051delinsAT	GRCh37
NC_000001.9:g.234948673_234948674delinsAT	NCBI36
NG_009081.1:g.37281_37282delinsAT
NG_009081.2:g.59610_59611delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.242-144_242-143delinsAT	ENSP00000443495.1:n.242-144_242-143delinsAT
ENST00000492634.7:n.337-144_337-143delinsAT
ENST00000682015.1:c.242-144_242-143delinsAT	ENSP00000506961.1:n.242-144_242-143delinsAT
ENST00000682692.1:n.242-144_242-143delinsAT
ENST00000682966.1:n.241-144_241-143delinsAT
ENST00000683075.1:n.181-144_181-143delinsAT
ENST00000683111.1:c.185-144_185-143delinsAT	ENSP00000507913.1:n.185-144_185-143delinsAT
ENST00000684050.1:n.277-144_277-143delinsAT
ENST00000684286.1:n.310-144_310-143delinsAT
ENST00000684502.1:n.277-144_277-143delinsAT
ENST00000366578.6:c.242-144_242-143delinsAT MANE Select	ENSP00000355537.4:n.242-144_242-143delinsAT
ENST00000492634.6:n.337-144_337-143delinsAT
ENST00000542672.6:c.242-144_242-143delinsAT	ENSP00000443495.1:n.242-144_242-143delinsAT
ENST00000651091.1:c.185-144_185-143delinsAT	ENSP00000498677.1:n.185-144_185-143delinsAT
ENST00000651187.1:c.26-144_26-143delinsAT	ENSP00000498348.1:n.26-144_26-143delinsAT
ENST00000651275.1:c.227-144_227-143delinsAT	ENSP00000498926.1:n.227-144_227-143delinsAT
ENST00000651786.1:c.242-144_242-143delinsAT	ENSP00000498364.1:n.242-144_242-143delinsAT
ENST00000652096.1:c.242-144_242-143delinsAT	ENSP00000498896.1:n.242-144_242-143delinsAT
ENST00000366578.5:c.242-144_242-143delinsAT	ENSP00000355537.4:n.242-144_242-143delinsAT
ENST00000492634.5:n.389-144_389-143delinsAT
ENST00000542672.5:c.242-144_242-143delinsAT	ENSP00000443495.1:n.242-144_242-143delinsAT
ENST00000546208.5:c.-580-144_-580-143delinsAT	ENSP00000438384.2:n.-580-144_-580-143delinsAT
NM_001103.3:c.242-144_242-143delinsAT	NP_001094.1:n.242-144_242-143delinsAT
NM_001278343.1:c.242-144_242-143delinsAT	NP_001265272.1:n.242-144_242-143delinsAT
NM_001278344.1:c.-580-144_-580-143delinsAT	NP_001265273.1:n.-580-144_-580-143delinsAT
NM_001278343.2:c.242-144_242-143delinsAT	NP_001265272.1:n.242-144_242-143delinsAT
NM_001103.4:c.242-144_242-143delinsAT MANE Select	NP_001094.1:n.242-144_242-143delinsAT
NM_001278344.2:c.-580-144_-580-143delinsAT	NP_001265273.1:n.-580-144_-580-143delinsAT