Canonical Allele Identifier: CA646718676

Gene: ACTN2

Linked Data

• COSMIC: COSN1100285 ; COSN5739057

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236719025G>T , CM000663.2:g.236719025G>T	GRCh38
NC_000001.10:g.236882325G>T , CM000663.1:g.236882325G>T	GRCh37
NC_000001.9:g.234948948G>T	NCBI36
NG_009081.1:g.37556G>T
NG_009081.2:g.59885G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.361+12G>T	ENSP00000443495.1:n.361+12G>T
ENST00000492634.7:n.456+12G>T
ENST00000494762.2:n.110+12G>T
ENST00000682015.1:c.361+12G>T	ENSP00000506961.1:n.361+12G>T
ENST00000682692.1:n.361+12G>T
ENST00000682966.1:n.360+12G>T
ENST00000683075.1:n.300+12G>T
ENST00000683111.1:c.304+12G>T	ENSP00000507913.1:n.304+12G>T
ENST00000684050.1:n.396+12G>T
ENST00000684286.1:n.429+12G>T
ENST00000684502.1:n.396+12G>T
ENST00000366578.6:c.361+12G>T MANE Select	ENSP00000355537.4:n.361+12G>T
ENST00000492634.6:n.456+12G>T
ENST00000542672.6:c.361+12G>T	ENSP00000443495.1:n.361+12G>T
ENST00000651091.1:c.304+12G>T	ENSP00000498677.1:n.304+12G>T
ENST00000651187.1:c.145+12G>T	ENSP00000498348.1:n.145+12G>T
ENST00000651275.1:c.346+12G>T	ENSP00000498926.1:n.346+12G>T
ENST00000651786.1:c.361+12G>T	ENSP00000498364.1:n.361+12G>T
ENST00000652096.1:c.361+12G>T	ENSP00000498896.1:n.361+12G>T
ENST00000366578.5:c.361+12G>T	ENSP00000355537.4:n.361+12G>T
ENST00000492634.5:n.508+12G>T
ENST00000542672.5:c.361+12G>T	ENSP00000443495.1:n.361+12G>T
ENST00000546208.5:c.-461+12G>T	ENSP00000438384.2:n.-461+12G>T
NM_001103.3:c.361+12G>T	NP_001094.1:n.361+12G>T
NM_001278343.1:c.361+12G>T	NP_001265272.1:n.361+12G>T
NM_001278344.1:c.-461+12G>T	NP_001265273.1:n.-461+12G>T
NM_001278343.2:c.361+12G>T	NP_001265272.1:n.361+12G>T
NM_001103.4:c.361+12G>T MANE Select	NP_001094.1:n.361+12G>T
NM_001278344.2:c.-461+12G>T	NP_001265273.1:n.-461+12G>T