Canonical Allele Identifier: CA345392668

Gene: ACTN2

Linked Data

• dbSNP Id: rs148972050
• gnomAD v4: 1-236762593-G-T
• MyVariant Identifiers: chr1:g.236925893G>T (hg19) ; chr1:g.236762593G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762593G>T , CM000663.2:g.236762593G>T	GRCh38
NC_000001.10:g.236925893G>T , CM000663.1:g.236925893G>T	GRCh37
NC_000001.9:g.234992516G>T	NCBI36
NG_009081.1:g.81124G>T
NG_009081.2:g.103453G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2659G>T	ENSP00000443495.1:p.Ala887Ser
ENST00000461367.2:n.955G>T
ENST00000492634.7:n.2589G>T
ENST00000682015.1:c.2566G>T	ENSP00000506961.1:p.Ala856Ser
ENST00000682490.1:n.577G>T
ENST00000682692.1:n.3754G>T
ENST00000682966.1:n.8300G>T
ENST00000683111.1:c.*1945G>T	ENSP00000507913.1:n.*1945G>T
ENST00000683322.1:n.4011G>T
ENST00000683805.1:n.1450G>T
ENST00000684050.1:n.5297G>T
ENST00000684122.1:n.2093G>T
ENST00000684286.1:n.4214G>T
ENST00000684502.1:n.3956G>T
ENST00000684763.1:n.1274G>T
ENST00000366578.6:c.2659G>T MANE Select	ENSP00000355537.4:p.Ala887Ser
ENST00000492634.6:n.2589G>T
ENST00000542672.6:c.2659G>T	ENSP00000443495.1:p.Ala887Ser
ENST00000651091.1:c.2349G>T	ENSP00000498677.1:n.2349G>T
ENST00000651275.1:c.2551G>T	ENSP00000498926.1:p.Ala851Ser
ENST00000651781.1:c.1739G>T
ENST00000651786.1:c.*2031G>T	ENSP00000498364.1:n.*2031G>T
ENST00000652096.1:c.*2064G>T	ENSP00000498896.1:n.*2064G>T
ENST00000366578.5:c.2659G>T	ENSP00000355537.4:p.Ala887Ser
ENST00000542672.5:c.2659G>T	ENSP00000443495.1:p.Ala887Ser
ENST00000546208.5:c.2035G>T	ENSP00000438384.2:p.Ala679Ser
NM_001103.3:c.2659G>T	NP_001094.1:p.Ala887Ser
NM_001278343.1:c.2659G>T	NP_001265272.1:p.Ala887Ser
NM_001278344.1:c.2035G>T	NP_001265273.1:p.Ala679Ser
NM_001278343.2:c.2659G>T	NP_001265272.1:p.Ala887Ser
NM_001103.4:c.2659G>T MANE Select	NP_001094.1:p.Ala887Ser
NM_001278344.2:c.2035G>T	NP_001265273.1:p.Ala679Ser