Canonical Allele Identifier: CA2487035699

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236718855_236718856delinsCT , CM000663.2:g.236718855_236718856delinsCT	GRCh38
NC_000001.10:g.236882155_236882156delinsCT , CM000663.1:g.236882155_236882156delinsCT	GRCh37
NC_000001.9:g.234948778_234948779delinsCT	NCBI36
NG_009081.1:g.37386_37387delinsCT
NG_009081.2:g.59715_59716delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.242-39_242-38delinsCT	ENSP00000443495.1:n.242-39_242-38delinsCT
ENST00000492634.7:n.337-39_337-38delinsCT
ENST00000682015.1:c.242-39_242-38delinsCT	ENSP00000506961.1:n.242-39_242-38delinsCT
ENST00000682692.1:n.242-39_242-38delinsCT
ENST00000682966.1:n.241-39_241-38delinsCT
ENST00000683075.1:n.181-39_181-38delinsCT
ENST00000683111.1:c.185-39_185-38delinsCT	ENSP00000507913.1:n.185-39_185-38delinsCT
ENST00000684050.1:n.277-39_277-38delinsCT
ENST00000684286.1:n.310-39_310-38delinsCT
ENST00000684502.1:n.277-39_277-38delinsCT
ENST00000366578.6:c.242-39_242-38delinsCT MANE Select	ENSP00000355537.4:n.242-39_242-38delinsCT
ENST00000492634.6:n.337-39_337-38delinsCT
ENST00000542672.6:c.242-39_242-38delinsCT	ENSP00000443495.1:n.242-39_242-38delinsCT
ENST00000651091.1:c.185-39_185-38delinsCT	ENSP00000498677.1:n.185-39_185-38delinsCT
ENST00000651187.1:c.26-39_26-38delinsCT	ENSP00000498348.1:n.26-39_26-38delinsCT
ENST00000651275.1:c.227-39_227-38delinsCT	ENSP00000498926.1:n.227-39_227-38delinsCT
ENST00000651786.1:c.242-39_242-38delinsCT	ENSP00000498364.1:n.242-39_242-38delinsCT
ENST00000652096.1:c.242-39_242-38delinsCT	ENSP00000498896.1:n.242-39_242-38delinsCT
ENST00000366578.5:c.242-39_242-38delinsCT	ENSP00000355537.4:n.242-39_242-38delinsCT
ENST00000492634.5:n.389-39_389-38delinsCT
ENST00000542672.5:c.242-39_242-38delinsCT	ENSP00000443495.1:n.242-39_242-38delinsCT
ENST00000546208.5:c.-580-39_-580-38delinsCT	ENSP00000438384.2:n.-580-39_-580-38delinsCT
NM_001103.3:c.242-39_242-38delinsCT	NP_001094.1:n.242-39_242-38delinsCT
NM_001278343.1:c.242-39_242-38delinsCT	NP_001265272.1:n.242-39_242-38delinsCT
NM_001278344.1:c.-580-39_-580-38delinsCT	NP_001265273.1:n.-580-39_-580-38delinsCT
NM_001278343.2:c.242-39_242-38delinsCT	NP_001265272.1:n.242-39_242-38delinsCT
NM_001103.4:c.242-39_242-38delinsCT MANE Select	NP_001094.1:n.242-39_242-38delinsCT
NM_001278344.2:c.-580-39_-580-38delinsCT	NP_001265273.1:n.-580-39_-580-38delinsCT