Canonical Allele Identifier: CA1473334

Gene: ACTN2

Linked Data

• dbSNP Id: rs750147806
• ExAC: 1:236918402 C / T
• gnomAD v2: 1-236918402-C-T
• gnomAD v4: 1-236755102-C-T
• MyVariant Identifiers: chr1:g.236918402C>T (hg19) ; chr1:g.236755102C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755102C>T , CM000663.2:g.236755102C>T	GRCh38
NC_000001.10:g.236918402C>T , CM000663.1:g.236918402C>T	GRCh37
NC_000001.9:g.234985025C>T	NCBI36
NG_009081.1:g.73633C>T
NG_009081.2:g.95962C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2058C>T	ENSP00000443495.1:p.Ile686=
ENST00000461367.2:n.354C>T
ENST00000492634.7:n.1988C>T
ENST00000682015.1:c.1965C>T	ENSP00000506961.1:p.Ile655=
ENST00000682692.1:n.3153C>T
ENST00000682966.1:n.7699C>T
ENST00000683111.1:c.*1344C>T	ENSP00000507913.1:n.*1344C>T
ENST00000683322.1:n.3410C>T
ENST00000683805.1:n.849C>T
ENST00000684050.1:n.4696C>T
ENST00000684122.1:n.205C>T
ENST00000684286.1:n.3613C>T
ENST00000684502.1:n.3355C>T
ENST00000684763.1:n.673C>T
ENST00000366578.6:c.2058C>T MANE Select	ENSP00000355537.4:p.Ile686=
ENST00000492634.6:n.1988C>T
ENST00000542672.6:c.2058C>T	ENSP00000443495.1:p.Ile686=
ENST00000651091.1:c.1748C>T	ENSP00000498677.1:n.1748C>T
ENST00000651275.1:c.1950C>T	ENSP00000498926.1:p.Ile650=
ENST00000651781.1:c.1138C>T
ENST00000651786.1:c.*1430C>T	ENSP00000498364.1:n.*1430C>T
ENST00000652096.1:c.*1463C>T	ENSP00000498896.1:n.*1463C>T
ENST00000366578.5:c.2058C>T	ENSP00000355537.4:p.Ile686=
ENST00000461367.1:n.267C>T
ENST00000542672.5:c.2058C>T	ENSP00000443495.1:p.Ile686=
ENST00000546208.5:c.1434C>T	ENSP00000438384.2:p.Ile478=
NM_001103.3:c.2058C>T	NP_001094.1:p.Ile686=
NM_001278343.1:c.2058C>T	NP_001265272.1:p.Ile686=
NM_001278344.1:c.1434C>T	NP_001265273.1:p.Ile478=
NM_001278343.2:c.2058C>T	NP_001265272.1:p.Ile686=
NM_001103.4:c.2058C>T MANE Select	NP_001094.1:p.Ile686=
NM_001278344.2:c.1434C>T	NP_001265273.1:p.Ile478=