Canonical Allele Identifier: CA345388670

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236920803G>T (hg19) ; chr1:g.236757503G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236757503G>T , CM000663.2:g.236757503G>T	GRCh38
NC_000001.10:g.236920803G>T , CM000663.1:g.236920803G>T	GRCh37
NC_000001.9:g.234987426G>T	NCBI36
NG_009081.1:g.76034G>T
NG_009081.2:g.98363G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2172G>T	ENSP00000443495.1:p.Trp724Cys
ENST00000461367.2:n.468G>T
ENST00000492634.7:n.2102G>T
ENST00000682015.1:c.2079G>T	ENSP00000506961.1:p.Trp693Cys
ENST00000682490.1:n.90G>T
ENST00000682692.1:n.3267G>T
ENST00000682966.1:n.7813G>T
ENST00000683111.1:c.*1458G>T	ENSP00000507913.1:n.*1458G>T
ENST00000683322.1:n.3524G>T
ENST00000683805.1:n.963G>T
ENST00000684050.1:n.4810G>T
ENST00000684122.1:n.319G>T
ENST00000684286.1:n.3727G>T
ENST00000684502.1:n.3469G>T
ENST00000684763.1:n.787G>T
ENST00000366578.6:c.2172G>T MANE Select	ENSP00000355537.4:p.Trp724Cys
ENST00000492634.6:n.2102G>T
ENST00000542672.6:c.2172G>T	ENSP00000443495.1:p.Trp724Cys
ENST00000651091.1:c.1862G>T	ENSP00000498677.1:n.1862G>T
ENST00000651275.1:c.2064G>T	ENSP00000498926.1:p.Trp688Cys
ENST00000651781.1:c.1252G>T
ENST00000651786.1:c.*1544G>T	ENSP00000498364.1:n.*1544G>T
ENST00000652096.1:c.*1577G>T	ENSP00000498896.1:n.*1577G>T
ENST00000366578.5:c.2172G>T	ENSP00000355537.4:p.Trp724Cys
ENST00000461367.1:n.381G>T
ENST00000542672.5:c.2172G>T	ENSP00000443495.1:p.Trp724Cys
ENST00000546208.5:c.1548G>T	ENSP00000438384.2:p.Trp516Cys
NM_001103.3:c.2172G>T	NP_001094.1:p.Trp724Cys
NM_001278343.1:c.2172G>T	NP_001265272.1:p.Trp724Cys
NM_001278344.1:c.1548G>T	NP_001265273.1:p.Trp516Cys
NM_001278343.2:c.2172G>T	NP_001265272.1:p.Trp724Cys
NM_001103.4:c.2172G>T MANE Select	NP_001094.1:p.Trp724Cys
NM_001278344.2:c.1548G>T	NP_001265273.1:p.Trp516Cys