Canonical Allele Identifier: CA1142223435

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762714_236762726delinsGAGAGAGAGAGAG , CM000663.2:g.236762714_236762726delinsGAGAGAGAGAGAG	GRCh38
NC_000001.10:g.236926014_236926026delinsGAGAGAGAGAGAG , CM000663.1:g.236926014_236926026delinsGAGAGAGAGAGAG	GRCh37
NC_000001.9:g.234992637_234992649delinsGAGAGAGAGAGAG	NCBI36
NG_009081.1:g.81245_81257delinsGAGAGAGAGAGAG
NG_009081.2:g.103574_103586delinsGAGAGAGAGAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*95_*107delinsGAGAGAGAGAGAG	ENSP00000443495.1:n.*95_*107delinsGAGAGAGAGAGAG
ENST00000461367.2:n.1076_1088delinsGAGAGAGAGAGAG
ENST00000492634.7:n.2710_2722delinsGAGAGAGAGAGAG
ENST00000682015.1:c.*95_*107delinsGAGAGAGAGAGAG	ENSP00000506961.1:n.*95_*107delinsGAGAGAGAGAGAG
ENST00000682490.1:n.698_710delinsGAGAGAGAGAGAG
ENST00000682692.1:n.3875_3887delinsGAGAGAGAGAGAG
ENST00000682966.1:n.8421_8433delinsGAGAGAGAGAGAG
ENST00000683111.1:c.*2066_*2078delinsGAGAGAGAGAGAG	ENSP00000507913.1:n.*2066_*2078delinsGAGAGAGAGAGAG
ENST00000683322.1:n.4132_4144delinsGAGAGAGAGAGAG
ENST00000683805.1:n.1571_1583delinsGAGAGAGAGAGAG
ENST00000684050.1:n.5418_5430delinsGAGAGAGAGAGAG
ENST00000684122.1:n.2214_2226delinsGAGAGAGAGAGAG
ENST00000684286.1:n.4335_4347delinsGAGAGAGAGAGAG
ENST00000684502.1:n.4077_4089delinsGAGAGAGAGAGAG
ENST00000684763.1:n.1395_1407delinsGAGAGAGAGAGAG
ENST00000366578.6:c.*95_*107delinsGAGAGAGAGAGAG MANE Select	ENSP00000355537.4:n.*95_*107delinsGAGAGAGAGAGAG
ENST00000492634.6:n.2710_2722delinsGAGAGAGAGAGAG
ENST00000542672.6:c.*95_*107delinsGAGAGAGAGAGAG	ENSP00000443495.1:n.*95_*107delinsGAGAGAGAGAGAG
ENST00000651275.1:c.2672_2684delinsGAGAGAGAGAGAG	ENSP00000498926.1:n.2672_2684delinsGAGAGAGAGAGAG
ENST00000651781.1:c.1860_1872delinsGAGAGAGAGAGAG
ENST00000652096.1:c.*2185_*2197delinsGAGAGAGAGAGAG	ENSP00000498896.1:n.*2185_*2197delinsGAGAGAGAGAGAG
ENST00000366578.5:c.*95_*107delinsGAGAGAGAGAGAG	ENSP00000355537.4:n.*95_*107delinsGAGAGAGAGAGAG
ENST00000542672.5:c.*95_*107delinsGAGAGAGAGAGAG	ENSP00000443495.1:n.*95_*107delinsGAGAGAGAGAGAG
ENST00000546208.5:c.*95_*107delinsGAGAGAGAGAGAG	ENSP00000438384.2:n.*95_*107delinsGAGAGAGAGAGAG
NM_001103.3:c.*95_*107delinsGAGAGAGAGAGAG	NP_001094.1:n.*95_*107delinsGAGAGAGAGAGAG
NM_001278343.1:c.*95_*107delinsGAGAGAGAGAGAG	NP_001265272.1:n.*95_*107delinsGAGAGAGAGAGAG
NM_001278344.1:c.*95_*107delinsGAGAGAGAGAGAG	NP_001265273.1:n.*95_*107delinsGAGAGAGAGAGAG
NM_001278343.2:c.*95_*107delinsGAGAGAGAGAGAG	NP_001265272.1:n.*95_*107delinsGAGAGAGAGAGAG
NM_001103.4:c.*95_*107delinsGAGAGAGAGAGAG MANE Select	NP_001094.1:n.*95_*107delinsGAGAGAGAGAGAG
NM_001278344.2:c.*95_*107delinsGAGAGAGAGAGAG	NP_001265273.1:n.*95_*107delinsGAGAGAGAGAGAG