Canonical Allele Identifier: CA345386924

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236917333T>G (hg19) ; chr1:g.236754033T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754033T>G , CM000663.2:g.236754033T>G	GRCh38
NC_000001.10:g.236917333T>G , CM000663.1:g.236917333T>G	GRCh37
NC_000001.9:g.234983956T>G	NCBI36
NG_009081.1:g.72564T>G
NG_009081.2:g.94893T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1926T>G	ENSP00000443495.1:p.Phe642Leu
ENST00000461367.2:n.222T>G
ENST00000492634.7:n.1856T>G
ENST00000682015.1:c.1833T>G	ENSP00000506961.1:p.Phe611Leu
ENST00000682692.1:n.3021T>G
ENST00000682966.1:n.7567T>G
ENST00000683111.1:c.*1212T>G	ENSP00000507913.1:n.*1212T>G
ENST00000683322.1:n.3278T>G
ENST00000684050.1:n.4564T>G
ENST00000684286.1:n.3481T>G
ENST00000684502.1:n.3223T>G
ENST00000684763.1:n.541T>G
ENST00000366578.6:c.1926T>G MANE Select	ENSP00000355537.4:p.Phe642Leu
ENST00000492634.6:n.1856T>G
ENST00000542672.6:c.1926T>G	ENSP00000443495.1:p.Phe642Leu
ENST00000651091.1:c.1616T>G	ENSP00000498677.1:n.1616T>G
ENST00000651275.1:c.1818T>G	ENSP00000498926.1:p.Phe606Leu
ENST00000651781.1:c.1006T>G
ENST00000651786.1:c.*1298T>G	ENSP00000498364.1:n.*1298T>G
ENST00000652096.1:c.*1331T>G	ENSP00000498896.1:n.*1331T>G
ENST00000366578.5:c.1926T>G	ENSP00000355537.4:p.Phe642Leu
ENST00000461367.1:n.135T>G
ENST00000542672.5:c.1926T>G	ENSP00000443495.1:p.Phe642Leu
ENST00000546208.5:c.1302T>G	ENSP00000438384.2:p.Phe434Leu
NM_001103.3:c.1926T>G	NP_001094.1:p.Phe642Leu
NM_001278343.1:c.1926T>G	NP_001265272.1:p.Phe642Leu
NM_001278344.1:c.1302T>G	NP_001265273.1:p.Phe434Leu
NM_001278343.2:c.1926T>G	NP_001265272.1:p.Phe642Leu
NM_001103.4:c.1926T>G MANE Select	NP_001094.1:p.Phe642Leu
NM_001278344.2:c.1302T>G	NP_001265273.1:p.Phe434Leu