Canonical Allele Identifier: CA345387725

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236918470A>T (hg19) ; chr1:g.236755170A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755170A>T , CM000663.2:g.236755170A>T	GRCh38
NC_000001.10:g.236918470A>T , CM000663.1:g.236918470A>T	GRCh37
NC_000001.9:g.234985093A>T	NCBI36
NG_009081.1:g.73701A>T
NG_009081.2:g.96030A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2126A>T	ENSP00000443495.1:p.Asp709Val
ENST00000461367.2:n.422A>T
ENST00000492634.7:n.2056A>T
ENST00000682015.1:c.2033A>T	ENSP00000506961.1:p.Asp678Val
ENST00000682692.1:n.3221A>T
ENST00000682966.1:n.7767A>T
ENST00000683111.1:c.*1412A>T	ENSP00000507913.1:n.*1412A>T
ENST00000683322.1:n.3478A>T
ENST00000683805.1:n.917A>T
ENST00000684050.1:n.4764A>T
ENST00000684122.1:n.273A>T
ENST00000684286.1:n.3681A>T
ENST00000684502.1:n.3423A>T
ENST00000684763.1:n.741A>T
ENST00000366578.6:c.2126A>T MANE Select	ENSP00000355537.4:p.Asp709Val
ENST00000492634.6:n.2056A>T
ENST00000542672.6:c.2126A>T	ENSP00000443495.1:p.Asp709Val
ENST00000651091.1:c.1816A>T	ENSP00000498677.1:n.1816A>T
ENST00000651275.1:c.2018A>T	ENSP00000498926.1:p.Asp673Val
ENST00000651781.1:c.1206A>T
ENST00000651786.1:c.*1498A>T	ENSP00000498364.1:n.*1498A>T
ENST00000652096.1:c.*1531A>T	ENSP00000498896.1:n.*1531A>T
ENST00000366578.5:c.2126A>T	ENSP00000355537.4:p.Asp709Val
ENST00000461367.1:n.335A>T
ENST00000542672.5:c.2126A>T	ENSP00000443495.1:p.Asp709Val
ENST00000546208.5:c.1502A>T	ENSP00000438384.2:p.Asp501Val
NM_001103.3:c.2126A>T	NP_001094.1:p.Asp709Val
NM_001278343.1:c.2126A>T	NP_001265272.1:p.Asp709Val
NM_001278344.1:c.1502A>T	NP_001265273.1:p.Asp501Val
NM_001278343.2:c.2126A>T	NP_001265272.1:p.Asp709Val
NM_001103.4:c.2126A>T MANE Select	NP_001094.1:p.Asp709Val
NM_001278344.2:c.1502A>T	NP_001265273.1:p.Asp501Val