Canonical Allele Identifier: CA423809478

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236910967T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236747667T>C , CM000663.2:g.236747667T>C	GRCh38
NC_000001.10:g.236910967T>C , CM000663.1:g.236910967T>C	GRCh37
NC_000001.9:g.234977590T>C	NCBI36
NG_009081.1:g.66198T>C
NG_009081.2:g.88527T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.1407T>C	ENSP00000443495.1:p.Asn469=
ENST00000492634.7:n.1337T>C
ENST00000682015.1:c.1314T>C	ENSP00000506961.1:p.Asn438=
ENST00000682692.1:n.1154T>C
ENST00000682966.1:n.7048T>C
ENST00000683111.1:c.*693T>C	ENSP00000507913.1:n.*693T>C
ENST00000683322.1:n.2759T>C
ENST00000684050.1:n.4045T>C
ENST00000684286.1:n.2962T>C
ENST00000684502.1:n.1356T>C
ENST00000366578.6:c.1407T>C MANE Select	ENSP00000355537.4:p.Asn469=
ENST00000492634.6:n.1337T>C
ENST00000542672.6:c.1407T>C	ENSP00000443495.1:p.Asn469=
ENST00000651091.1:c.1097T>C	ENSP00000498677.1:n.1097T>C
ENST00000651275.1:c.1299T>C	ENSP00000498926.1:p.Asn433=
ENST00000651781.1:c.487T>C
ENST00000651786.1:c.*779T>C	ENSP00000498364.1:n.*779T>C
ENST00000652096.1:c.*812T>C	ENSP00000498896.1:n.*812T>C
ENST00000366578.5:c.1407T>C	ENSP00000355537.4:p.Asn469=
ENST00000542672.5:c.1407T>C	ENSP00000443495.1:p.Asn469=
ENST00000546208.5:c.783T>C	ENSP00000438384.2:p.Asn261=
NM_001103.3:c.1407T>C	NP_001094.1:p.Asn469=
NM_001278343.1:c.1407T>C	NP_001265272.1:p.Asn469=
NM_001278344.1:c.783T>C	NP_001265273.1:p.Asn261=
NM_001278343.2:c.1407T>C	NP_001265272.1:p.Asn469=
NM_001103.4:c.1407T>C MANE Select	NP_001094.1:p.Asn469=
NM_001278344.2:c.783T>C	NP_001265273.1:p.Asn261=