Canonical Allele Identifier: CA345384206

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236911063A>T (hg19) ; chr1:g.236747763A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236747763A>T , CM000663.2:g.236747763A>T	GRCh38
NC_000001.10:g.236911063A>T , CM000663.1:g.236911063A>T	GRCh37
NC_000001.9:g.234977686A>T	NCBI36
NG_009081.1:g.66294A>T
NG_009081.2:g.88623A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1503A>T	ENSP00000443495.1:p.Arg501Ser
ENST00000492634.7:n.1433A>T
ENST00000682015.1:c.1410A>T	ENSP00000506961.1:p.Arg470Ser
ENST00000682692.1:n.1250A>T
ENST00000682966.1:n.7144A>T
ENST00000683111.1:c.*789A>T	ENSP00000507913.1:n.*789A>T
ENST00000683322.1:n.2855A>T
ENST00000684050.1:n.4141A>T
ENST00000684286.1:n.3058A>T
ENST00000684502.1:n.1452A>T
ENST00000366578.6:c.1503A>T MANE Select	ENSP00000355537.4:p.Arg501Ser
ENST00000492634.6:n.1433A>T
ENST00000542672.6:c.1503A>T	ENSP00000443495.1:p.Arg501Ser
ENST00000651091.1:c.1193A>T	ENSP00000498677.1:n.1193A>T
ENST00000651275.1:c.1395A>T	ENSP00000498926.1:p.Arg465Ser
ENST00000651781.1:c.583A>T
ENST00000651786.1:c.*875A>T	ENSP00000498364.1:n.*875A>T
ENST00000652096.1:c.*908A>T	ENSP00000498896.1:n.*908A>T
ENST00000366578.5:c.1503A>T	ENSP00000355537.4:p.Arg501Ser
ENST00000492101.1:n.64A>T
ENST00000542672.5:c.1503A>T	ENSP00000443495.1:p.Arg501Ser
ENST00000546208.5:c.879A>T	ENSP00000438384.2:p.Arg293Ser
NM_001103.3:c.1503A>T	NP_001094.1:p.Arg501Ser
NM_001278343.1:c.1503A>T	NP_001265272.1:p.Arg501Ser
NM_001278344.1:c.879A>T	NP_001265273.1:p.Arg293Ser
NM_001278343.2:c.1503A>T	NP_001265272.1:p.Arg501Ser
NM_001103.4:c.1503A>T MANE Select	NP_001094.1:p.Arg501Ser
NM_001278344.2:c.879A>T	NP_001265273.1:p.Arg293Ser