Canonical Allele Identifier: CA16042379

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 373783
• ClinVar RCV Id: RCV000413316 ; RCV002524660
• dbSNP Id: rs1057518609
• MyVariant Identifiers: chr1:g.236850038A>T (hg19) ; chr1:g.236686738A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236686738A>T , CM000663.2:g.236686738A>T	GRCh38
NC_000001.10:g.236850038A>T , CM000663.1:g.236850038A>T	GRCh37
NC_000001.9:g.234916661A>T	NCBI36
NG_009081.1:g.5269A>T
NG_009081.2:g.27598A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.65A>T	ENSP00000443495.1:p.Gln22Leu
ENST00000682015.1:c.65A>T	ENSP00000506961.1:p.Gln22Leu
ENST00000682692.1:n.65A>T
ENST00000682966.1:n.64A>T
ENST00000683075.1:n.4A>T
ENST00000683111.1:c.8A>T	ENSP00000507913.1:p.Gln3Leu
ENST00000684050.1:n.100A>T
ENST00000684286.1:n.133A>T
ENST00000684502.1:n.100A>T
ENST00000366578.6:c.65A>T MANE Select	ENSP00000355537.4:p.Gln22Leu
ENST00000542672.6:c.65A>T	ENSP00000443495.1:p.Gln22Leu
ENST00000651091.1:c.8A>T	ENSP00000498677.1:p.Gln3Leu
ENST00000651187.1:c.-91+9628A>T	ENSP00000498348.1:n.-91+9628A>T
ENST00000651275.1:c.50A>T	ENSP00000498926.1:p.Gln17Leu
ENST00000651786.1:c.65A>T	ENSP00000498364.1:p.Gln22Leu
ENST00000652096.1:c.65A>T	ENSP00000498896.1:p.Gln22Leu
ENST00000366578.5:c.65A>T	ENSP00000355537.4:p.Gln22Leu
ENST00000492634.5:n.212A>T
ENST00000542672.5:c.65A>T	ENSP00000443495.1:p.Gln22Leu
ENST00000546208.5:c.-757A>T	ENSP00000438384.2:n.-757A>T
NM_001103.3:c.65A>T	NP_001094.1:p.Gln22Leu
NM_001278343.1:c.65A>T	NP_001265272.1:p.Gln22Leu
NM_001278344.1:c.-757A>T	NP_001265273.1:n.-757A>T
NM_001278343.2:c.65A>T	NP_001265272.1:p.Gln22Leu
NM_001103.4:c.65A>T MANE Select	NP_001094.1:p.Gln22Leu
NM_001278344.2:c.-757A>T	NP_001265273.1:n.-757A>T