Canonical Allele Identifier: CA2487035798

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236719136_236719140delinsGCTCT , CM000663.2:g.236719136_236719140delinsGCTCT	GRCh38
NC_000001.10:g.236882436_236882440delinsGCTCT , CM000663.1:g.236882436_236882440delinsGCTCT	GRCh37
NC_000001.9:g.234949059_234949063delinsGCTCT	NCBI36
NG_009081.1:g.37667_37671delinsGCTCT
NG_009081.2:g.59996_60000delinsGCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.361+123_361+127delinsGCTCT	ENSP00000443495.1:n.361+123_361+127delinsGCTCT
ENST00000492634.7:n.456+123_456+127delinsGCTCT
ENST00000494762.2:n.110+123_110+127delinsGCTCT
ENST00000682015.1:c.361+123_361+127delinsGCTCT	ENSP00000506961.1:n.361+123_361+127delinsGCTCT
ENST00000682692.1:n.361+123_361+127delinsGCTCT
ENST00000682966.1:n.360+123_360+127delinsGCTCT
ENST00000683075.1:n.300+123_300+127delinsGCTCT
ENST00000683111.1:c.304+123_304+127delinsGCTCT	ENSP00000507913.1:n.304+123_304+127delinsGCTCT
ENST00000684050.1:n.396+123_396+127delinsGCTCT
ENST00000684286.1:n.429+123_429+127delinsGCTCT
ENST00000684502.1:n.396+123_396+127delinsGCTCT
ENST00000366578.6:c.361+123_361+127delinsGCTCT MANE Select	ENSP00000355537.4:n.361+123_361+127delinsGCTCT
ENST00000492634.6:n.456+123_456+127delinsGCTCT
ENST00000542672.6:c.361+123_361+127delinsGCTCT	ENSP00000443495.1:n.361+123_361+127delinsGCTCT
ENST00000651091.1:c.304+123_304+127delinsGCTCT	ENSP00000498677.1:n.304+123_304+127delinsGCTCT
ENST00000651187.1:c.145+123_145+127delinsGCTCT	ENSP00000498348.1:n.145+123_145+127delinsGCTCT
ENST00000651275.1:c.346+123_346+127delinsGCTCT	ENSP00000498926.1:n.346+123_346+127delinsGCTCT
ENST00000651786.1:c.361+123_361+127delinsGCTCT	ENSP00000498364.1:n.361+123_361+127delinsGCTCT
ENST00000652096.1:c.361+123_361+127delinsGCTCT	ENSP00000498896.1:n.361+123_361+127delinsGCTCT
ENST00000366578.5:c.361+123_361+127delinsGCTCT	ENSP00000355537.4:n.361+123_361+127delinsGCTCT
ENST00000492634.5:n.508+123_508+127delinsGCTCT
ENST00000542672.5:c.361+123_361+127delinsGCTCT	ENSP00000443495.1:n.361+123_361+127delinsGCTCT
ENST00000546208.5:c.-461+123_-461+127delinsGCTCT	ENSP00000438384.2:n.-461+123_-461+127delinsGCTCT
NM_001103.3:c.361+123_361+127delinsGCTCT	NP_001094.1:n.361+123_361+127delinsGCTCT
NM_001278343.1:c.361+123_361+127delinsGCTCT	NP_001265272.1:n.361+123_361+127delinsGCTCT
NM_001278344.1:c.-461+123_-461+127delinsGCTCT	NP_001265273.1:n.-461+123_-461+127delinsGCTCT
NM_001278343.2:c.361+123_361+127delinsGCTCT	NP_001265272.1:n.361+123_361+127delinsGCTCT
NM_001103.4:c.361+123_361+127delinsGCTCT MANE Select	NP_001094.1:n.361+123_361+127delinsGCTCT
NM_001278344.2:c.-461+123_-461+127delinsGCTCT	NP_001265273.1:n.-461+123_-461+127delinsGCTCT