Canonical Allele Identifier: CA345383679

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236910967T>A (hg19) ; chr1:g.236747667T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1407T>A	ENSP00000443495.1:p.Asn469Lys
ENST00000492634.7:n.1337T>A
ENST00000682015.1:c.1314T>A	ENSP00000506961.1:p.Asn438Lys
ENST00000682692.1:n.1154T>A
ENST00000682966.1:n.7048T>A
ENST00000683111.1:c.*693T>A	ENSP00000507913.1:n.*693T>A
ENST00000683322.1:n.2759T>A
ENST00000684050.1:n.4045T>A
ENST00000684286.1:n.2962T>A
ENST00000684502.1:n.1356T>A
ENST00000366578.6:c.1407T>A MANE Select	ENSP00000355537.4:p.Asn469Lys
ENST00000492634.6:n.1337T>A
ENST00000542672.6:c.1407T>A	ENSP00000443495.1:p.Asn469Lys
ENST00000651091.1:c.1097T>A	ENSP00000498677.1:n.1097T>A
ENST00000651275.1:c.1299T>A	ENSP00000498926.1:p.Asn433Lys
ENST00000651781.1:c.487T>A
ENST00000651786.1:c.*779T>A	ENSP00000498364.1:n.*779T>A
ENST00000652096.1:c.*812T>A	ENSP00000498896.1:n.*812T>A
ENST00000366578.5:c.1407T>A	ENSP00000355537.4:p.Asn469Lys
ENST00000542672.5:c.1407T>A	ENSP00000443495.1:p.Asn469Lys
ENST00000546208.5:c.783T>A	ENSP00000438384.2:p.Asn261Lys
NM_001103.3:c.1407T>A	NP_001094.1:p.Asn469Lys
NM_001278343.1:c.1407T>A	NP_001265272.1:p.Asn469Lys
NM_001278344.1:c.783T>A	NP_001265273.1:p.Asn261Lys
NM_001278343.2:c.1407T>A	NP_001265272.1:p.Asn469Lys
NM_001103.4:c.1407T>A MANE Select	NP_001094.1:p.Asn469Lys
NM_001278344.2:c.783T>A	NP_001265273.1:p.Asn261Lys