Canonical Allele Identifier: CA733216745

Gene: ACTN2

Linked Data

• dbSNP Id: rs1172205052
• gnomAD v4: 1-236762680-G-T
• MyVariant Identifiers: chr1:g.236925980G>T (hg19) ; chr1:g.236762680G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762680G>T , CM000663.2:g.236762680G>T	GRCh38
NC_000001.10:g.236925980G>T , CM000663.1:g.236925980G>T	GRCh37
NC_000001.9:g.234992603G>T	NCBI36
NG_009081.1:g.81211G>T
NG_009081.2:g.103540G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*61G>T	ENSP00000443495.1:n.*61G>T
ENST00000461367.2:n.1042G>T
ENST00000492634.7:n.2676G>T
ENST00000682015.1:c.*61G>T	ENSP00000506961.1:n.*61G>T
ENST00000682490.1:n.664G>T
ENST00000682692.1:n.3841G>T
ENST00000682966.1:n.8387G>T
ENST00000683111.1:c.*2032G>T	ENSP00000507913.1:n.*2032G>T
ENST00000683322.1:n.4098G>T
ENST00000683805.1:n.1537G>T
ENST00000684050.1:n.5384G>T
ENST00000684122.1:n.2180G>T
ENST00000684286.1:n.4301G>T
ENST00000684502.1:n.4043G>T
ENST00000684763.1:n.1361G>T
ENST00000366578.6:c.*61G>T MANE Select	ENSP00000355537.4:n.*61G>T
ENST00000492634.6:n.2676G>T
ENST00000542672.6:c.*61G>T	ENSP00000443495.1:n.*61G>T
ENST00000651275.1:c.2638G>T	ENSP00000498926.1:n.2638G>T
ENST00000651781.1:c.1826G>T
ENST00000651786.1:c.*2118G>T	ENSP00000498364.1:n.*2118G>T
ENST00000652096.1:c.*2151G>T	ENSP00000498896.1:n.*2151G>T
ENST00000366578.5:c.*61G>T	ENSP00000355537.4:n.*61G>T
ENST00000542672.5:c.*61G>T	ENSP00000443495.1:n.*61G>T
ENST00000546208.5:c.*61G>T	ENSP00000438384.2:n.*61G>T
NM_001103.3:c.*61G>T	NP_001094.1:n.*61G>T
NM_001278343.1:c.*61G>T	NP_001265272.1:n.*61G>T
NM_001278344.1:c.*61G>T	NP_001265273.1:n.*61G>T
NM_001278343.2:c.*61G>T	NP_001265272.1:n.*61G>T
NM_001103.4:c.*61G>T MANE Select	NP_001094.1:n.*61G>T
NM_001278344.2:c.*61G>T	NP_001265273.1:n.*61G>T