Canonical Allele Identifier: CA2748243211

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236719032_236719033insTGTTTGG , CM000663.2:g.236719032_236719033insTGTTTGG	GRCh38
NC_000001.10:g.236882332_236882333insTGTTTGG , CM000663.1:g.236882332_236882333insTGTTTGG	GRCh37
NC_000001.9:g.234948955_234948956insTGTTTGG	NCBI36
NG_009081.1:g.37563_37564insTGTTTGG
NG_009081.2:g.59892_59893insTGTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.361+19_361+20insTGTTTGG	ENSP00000443495.1:n.361+19_361+20insTGTTTGG
ENST00000492634.7:n.456+19_456+20insTGTTTGG
ENST00000494762.2:n.110+19_110+20insTGTTTGG
ENST00000682015.1:c.361+19_361+20insTGTTTGG	ENSP00000506961.1:n.361+19_361+20insTGTTTGG
ENST00000682692.1:n.361+19_361+20insTGTTTGG
ENST00000682966.1:n.360+19_360+20insTGTTTGG
ENST00000683075.1:n.300+19_300+20insTGTTTGG
ENST00000683111.1:c.304+19_304+20insTGTTTGG	ENSP00000507913.1:n.304+19_304+20insTGTTTGG
ENST00000684050.1:n.396+19_396+20insTGTTTGG
ENST00000684286.1:n.429+19_429+20insTGTTTGG
ENST00000684502.1:n.396+19_396+20insTGTTTGG
ENST00000366578.6:c.361+19_361+20insTGTTTGG MANE Select	ENSP00000355537.4:n.361+19_361+20insTGTTTGG
ENST00000492634.6:n.456+19_456+20insTGTTTGG
ENST00000542672.6:c.361+19_361+20insTGTTTGG	ENSP00000443495.1:n.361+19_361+20insTGTTTGG
ENST00000651091.1:c.304+19_304+20insTGTTTGG	ENSP00000498677.1:n.304+19_304+20insTGTTTGG
ENST00000651187.1:c.145+19_145+20insTGTTTGG	ENSP00000498348.1:n.145+19_145+20insTGTTTGG
ENST00000651275.1:c.346+19_346+20insTGTTTGG	ENSP00000498926.1:n.346+19_346+20insTGTTTGG
ENST00000651786.1:c.361+19_361+20insTGTTTGG	ENSP00000498364.1:n.361+19_361+20insTGTTTGG
ENST00000652096.1:c.361+19_361+20insTGTTTGG	ENSP00000498896.1:n.361+19_361+20insTGTTTGG
ENST00000366578.5:c.361+19_361+20insTGTTTGG	ENSP00000355537.4:n.361+19_361+20insTGTTTGG
ENST00000492634.5:n.508+19_508+20insTGTTTGG
ENST00000542672.5:c.361+19_361+20insTGTTTGG	ENSP00000443495.1:n.361+19_361+20insTGTTTGG
ENST00000546208.5:c.-461+19_-461+20insTGTTTGG	ENSP00000438384.2:n.-461+19_-461+20insTGTTTGG
NM_001103.3:c.361+19_361+20insTGTTTGG	NP_001094.1:n.361+19_361+20insTGTTTGG
NM_001278343.1:c.361+19_361+20insTGTTTGG	NP_001265272.1:n.361+19_361+20insTGTTTGG
NM_001278344.1:c.-461+19_-461+20insTGTTTGG	NP_001265273.1:n.-461+19_-461+20insTGTTTGG
NM_001278343.2:c.361+19_361+20insTGTTTGG	NP_001265272.1:n.361+19_361+20insTGTTTGG
NM_001103.4:c.361+19_361+20insTGTTTGG MANE Select	NP_001094.1:n.361+19_361+20insTGTTTGG
NM_001278344.2:c.-461+19_-461+20insTGTTTGG	NP_001265273.1:n.-461+19_-461+20insTGTTTGG