Canonical Allele Identifier: CA345387058

Gene: ACTN2

Linked Data

• dbSNP Id: rs1354629532
• gnomAD v2: 1-236917363-G-C
• gnomAD v4: 1-236754063-G-C
• MyVariant Identifiers: chr1:g.236917363G>C (hg19) ; chr1:g.236754063G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754063G>C , CM000663.2:g.236754063G>C	GRCh38
NC_000001.10:g.236917363G>C , CM000663.1:g.236917363G>C	GRCh37
NC_000001.9:g.234983986G>C	NCBI36
NG_009081.1:g.72594G>C
NG_009081.2:g.94923G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1956G>C	ENSP00000443495.1:p.Trp652Cys
ENST00000461367.2:n.252G>C
ENST00000492634.7:n.1886G>C
ENST00000682015.1:c.1863G>C	ENSP00000506961.1:p.Trp621Cys
ENST00000682692.1:n.3051G>C
ENST00000682966.1:n.7597G>C
ENST00000683111.1:c.*1242G>C	ENSP00000507913.1:n.*1242G>C
ENST00000683322.1:n.3308G>C
ENST00000684050.1:n.4594G>C
ENST00000684286.1:n.3511G>C
ENST00000684502.1:n.3253G>C
ENST00000684763.1:n.571G>C
ENST00000366578.6:c.1956G>C MANE Select	ENSP00000355537.4:p.Trp652Cys
ENST00000492634.6:n.1886G>C
ENST00000542672.6:c.1956G>C	ENSP00000443495.1:p.Trp652Cys
ENST00000651091.1:c.1646G>C	ENSP00000498677.1:n.1646G>C
ENST00000651275.1:c.1848G>C	ENSP00000498926.1:p.Trp616Cys
ENST00000651781.1:c.1036G>C
ENST00000651786.1:c.*1328G>C	ENSP00000498364.1:n.*1328G>C
ENST00000652096.1:c.*1361G>C	ENSP00000498896.1:n.*1361G>C
ENST00000366578.5:c.1956G>C	ENSP00000355537.4:p.Trp652Cys
ENST00000461367.1:n.165G>C
ENST00000542672.5:c.1956G>C	ENSP00000443495.1:p.Trp652Cys
ENST00000546208.5:c.1332G>C	ENSP00000438384.2:p.Trp444Cys
NM_001103.3:c.1956G>C	NP_001094.1:p.Trp652Cys
NM_001278343.1:c.1956G>C	NP_001265272.1:p.Trp652Cys
NM_001278344.1:c.1332G>C	NP_001265273.1:p.Trp444Cys
NM_001278343.2:c.1956G>C	NP_001265272.1:p.Trp652Cys
NM_001103.4:c.1956G>C MANE Select	NP_001094.1:p.Trp652Cys
NM_001278344.2:c.1332G>C	NP_001265273.1:p.Trp444Cys