Canonical Allele Identifier: CA345387569

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236918403A>C (hg19) ; chr1:g.236755103A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755103A>C , CM000663.2:g.236755103A>C	GRCh38
NC_000001.10:g.236918403A>C , CM000663.1:g.236918403A>C	GRCh37
NC_000001.9:g.234985026A>C	NCBI36
NG_009081.1:g.73634A>C
NG_009081.2:g.95963A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2059A>C	ENSP00000443495.1:p.Asn687His
ENST00000461367.2:n.355A>C
ENST00000492634.7:n.1989A>C
ENST00000682015.1:c.1966A>C	ENSP00000506961.1:p.Asn656His
ENST00000682692.1:n.3154A>C
ENST00000682966.1:n.7700A>C
ENST00000683111.1:c.*1345A>C	ENSP00000507913.1:n.*1345A>C
ENST00000683322.1:n.3411A>C
ENST00000683805.1:n.850A>C
ENST00000684050.1:n.4697A>C
ENST00000684122.1:n.206A>C
ENST00000684286.1:n.3614A>C
ENST00000684502.1:n.3356A>C
ENST00000684763.1:n.674A>C
ENST00000366578.6:c.2059A>C MANE Select	ENSP00000355537.4:p.Asn687His
ENST00000492634.6:n.1989A>C
ENST00000542672.6:c.2059A>C	ENSP00000443495.1:p.Asn687His
ENST00000651091.1:c.1749A>C	ENSP00000498677.1:n.1749A>C
ENST00000651275.1:c.1951A>C	ENSP00000498926.1:p.Asn651His
ENST00000651781.1:c.1139A>C
ENST00000651786.1:c.*1431A>C	ENSP00000498364.1:n.*1431A>C
ENST00000652096.1:c.*1464A>C	ENSP00000498896.1:n.*1464A>C
ENST00000366578.5:c.2059A>C	ENSP00000355537.4:p.Asn687His
ENST00000461367.1:n.268A>C
ENST00000542672.5:c.2059A>C	ENSP00000443495.1:p.Asn687His
ENST00000546208.5:c.1435A>C	ENSP00000438384.2:p.Asn479His
NM_001103.3:c.2059A>C	NP_001094.1:p.Asn687His
NM_001278343.1:c.2059A>C	NP_001265272.1:p.Asn687His
NM_001278344.1:c.1435A>C	NP_001265273.1:p.Asn479His
NM_001278343.2:c.2059A>C	NP_001265272.1:p.Asn687His
NM_001103.4:c.2059A>C MANE Select	NP_001094.1:p.Asn687His
NM_001278344.2:c.1435A>C	NP_001265273.1:p.Asn479His