Canonical Allele Identifier: CA2487035737

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236718982_236718983delinsAG , CM000663.2:g.236718982_236718983delinsAG	GRCh38
NC_000001.10:g.236882282_236882283delinsAG , CM000663.1:g.236882282_236882283delinsAG	GRCh37
NC_000001.9:g.234948905_234948906delinsAG	NCBI36
NG_009081.1:g.37513_37514delinsAG
NG_009081.2:g.59842_59843delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.330_331delinsAG	ENSP00000443495.1:p.Lys110=
ENST00000492634.7:n.425_426delinsAG
ENST00000494762.2:n.79_80delinsAG
ENST00000682015.1:c.330_331delinsAG	ENSP00000506961.1:p.Lys110=
ENST00000682692.1:n.330_331delinsAG
ENST00000682966.1:n.329_330delinsAG
ENST00000683075.1:n.269_270delinsAG
ENST00000683111.1:c.273_274delinsAG	ENSP00000507913.1:p.Lys91=
ENST00000684050.1:n.365_366delinsAG
ENST00000684286.1:n.398_399delinsAG
ENST00000684502.1:n.365_366delinsAG
ENST00000366578.6:c.330_331delinsAG MANE Select	ENSP00000355537.4:p.Lys110=
ENST00000492634.6:n.425_426delinsAG
ENST00000542672.6:c.330_331delinsAG	ENSP00000443495.1:p.Lys110=
ENST00000651091.1:c.273_274delinsAG	ENSP00000498677.1:p.Lys91=
ENST00000651187.1:c.114_115delinsAG	ENSP00000498348.1:p.Lys38=
ENST00000651275.1:c.315_316delinsAG	ENSP00000498926.1:p.Lys105=
ENST00000651786.1:c.330_331delinsAG	ENSP00000498364.1:p.Lys110=
ENST00000652096.1:c.330_331delinsAG	ENSP00000498896.1:p.Lys110=
ENST00000366578.5:c.330_331delinsAG	ENSP00000355537.4:p.Lys110=
ENST00000492634.5:n.477_478delinsAG
ENST00000542672.5:c.330_331delinsAG	ENSP00000443495.1:p.Lys110=
ENST00000546208.5:c.-492_-491delinsAG	ENSP00000438384.2:n.-492_-491delinsAG
NM_001103.3:c.330_331delinsAG	NP_001094.1:p.Lys110=
NM_001278343.1:c.330_331delinsAG	NP_001265272.1:p.Lys110=
NM_001278344.1:c.-492_-491delinsAG	NP_001265273.1:n.-492_-491delinsAG
NM_001278343.2:c.330_331delinsAG	NP_001265272.1:p.Lys110=
NM_001103.4:c.330_331delinsAG MANE Select	NP_001094.1:p.Lys110=
NM_001278344.2:c.-492_-491delinsAG	NP_001265273.1:n.-492_-491delinsAG