Canonical Allele Identifier: CA2574162133

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762702C>T , CM000663.2:g.236762702C>T	GRCh38
NC_000001.10:g.236926002C>T , CM000663.1:g.236926002C>T	GRCh37
NC_000001.9:g.234992625C>T	NCBI36
NG_009081.1:g.81233C>T
NG_009081.2:g.103562C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*83C>T	ENSP00000443495.1:n.*83C>T
ENST00000461367.2:n.1064C>T
ENST00000492634.7:n.2698C>T
ENST00000682015.1:c.*83C>T	ENSP00000506961.1:n.*83C>T
ENST00000682490.1:n.686C>T
ENST00000682692.1:n.3863C>T
ENST00000682966.1:n.8409C>T
ENST00000683111.1:c.*2054C>T	ENSP00000507913.1:n.*2054C>T
ENST00000683322.1:n.4120C>T
ENST00000683805.1:n.1559C>T
ENST00000684050.1:n.5406C>T
ENST00000684122.1:n.2202C>T
ENST00000684286.1:n.4323C>T
ENST00000684502.1:n.4065C>T
ENST00000684763.1:n.1383C>T
ENST00000366578.6:c.*83C>T MANE Select	ENSP00000355537.4:n.*83C>T
ENST00000492634.6:n.2698C>T
ENST00000542672.6:c.*83C>T	ENSP00000443495.1:n.*83C>T
ENST00000651275.1:c.2660C>T	ENSP00000498926.1:n.2660C>T
ENST00000651781.1:c.1848C>T
ENST00000651786.1:c.*2140C>T	ENSP00000498364.1:n.*2140C>T
ENST00000652096.1:c.*2173C>T	ENSP00000498896.1:n.*2173C>T
ENST00000366578.5:c.*83C>T	ENSP00000355537.4:n.*83C>T
ENST00000542672.5:c.*83C>T	ENSP00000443495.1:n.*83C>T
ENST00000546208.5:c.*83C>T	ENSP00000438384.2:n.*83C>T
NM_001103.3:c.*83C>T	NP_001094.1:n.*83C>T
NM_001278343.1:c.*83C>T	NP_001265272.1:n.*83C>T
NM_001278344.1:c.*83C>T	NP_001265273.1:n.*83C>T
NM_001278343.2:c.*83C>T	NP_001265272.1:n.*83C>T
NM_001103.4:c.*83C>T MANE Select	NP_001094.1:n.*83C>T
NM_001278344.2:c.*83C>T	NP_001265273.1:n.*83C>T