Canonical Allele Identifier: CA345386998

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236917348T>A (hg19) ; chr1:g.236754048T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754048T>A , CM000663.2:g.236754048T>A	GRCh38
NC_000001.10:g.236917348T>A , CM000663.1:g.236917348T>A	GRCh37
NC_000001.9:g.234983971T>A	NCBI36
NG_009081.1:g.72579T>A
NG_009081.2:g.94908T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1941T>A	ENSP00000443495.1:p.Asn647Lys
ENST00000461367.2:n.237T>A
ENST00000492634.7:n.1871T>A
ENST00000682015.1:c.1848T>A	ENSP00000506961.1:p.Asn616Lys
ENST00000682692.1:n.3036T>A
ENST00000682966.1:n.7582T>A
ENST00000683111.1:c.*1227T>A	ENSP00000507913.1:n.*1227T>A
ENST00000683322.1:n.3293T>A
ENST00000684050.1:n.4579T>A
ENST00000684286.1:n.3496T>A
ENST00000684502.1:n.3238T>A
ENST00000684763.1:n.556T>A
ENST00000366578.6:c.1941T>A MANE Select	ENSP00000355537.4:p.Asn647Lys
ENST00000492634.6:n.1871T>A
ENST00000542672.6:c.1941T>A	ENSP00000443495.1:p.Asn647Lys
ENST00000651091.1:c.1631T>A	ENSP00000498677.1:n.1631T>A
ENST00000651275.1:c.1833T>A	ENSP00000498926.1:p.Asn611Lys
ENST00000651781.1:c.1021T>A
ENST00000651786.1:c.*1313T>A	ENSP00000498364.1:n.*1313T>A
ENST00000652096.1:c.*1346T>A	ENSP00000498896.1:n.*1346T>A
ENST00000366578.5:c.1941T>A	ENSP00000355537.4:p.Asn647Lys
ENST00000461367.1:n.150T>A
ENST00000542672.5:c.1941T>A	ENSP00000443495.1:p.Asn647Lys
ENST00000546208.5:c.1317T>A	ENSP00000438384.2:p.Asn439Lys
NM_001103.3:c.1941T>A	NP_001094.1:p.Asn647Lys
NM_001278343.1:c.1941T>A	NP_001265272.1:p.Asn647Lys
NM_001278344.1:c.1317T>A	NP_001265273.1:p.Asn439Lys
NM_001278343.2:c.1941T>A	NP_001265272.1:p.Asn647Lys
NM_001103.4:c.1941T>A MANE Select	NP_001094.1:p.Asn647Lys
NM_001278344.2:c.1317T>A	NP_001265273.1:p.Asn439Lys