Canonical Allele Identifier: CA345373685

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 874331
• ClinVar RCV Id: RCV001097192 ; RCV001243365 ; RCV003456472
• dbSNP Id: rs1131691370
• gnomAD v4: 1-236719004-G-A
• MyVariant Identifiers: chr1:g.236882304G>A (hg19) ; chr1:g.236719004G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236719004G>A , CM000663.2:g.236719004G>A	GRCh38
NC_000001.10:g.236882304G>A , CM000663.1:g.236882304G>A	GRCh37
NC_000001.9:g.234948927G>A	NCBI36
NG_009081.1:g.37535G>A
NG_009081.2:g.59864G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.352G>A	ENSP00000443495.1:p.Gly118Ser
ENST00000492634.7:n.447G>A
ENST00000494762.2:n.101G>A
ENST00000682015.1:c.352G>A	ENSP00000506961.1:p.Gly118Ser
ENST00000682692.1:n.352G>A
ENST00000682966.1:n.351G>A
ENST00000683075.1:n.291G>A
ENST00000683111.1:c.295G>A	ENSP00000507913.1:p.Gly99Ser
ENST00000684050.1:n.387G>A
ENST00000684286.1:n.420G>A
ENST00000684502.1:n.387G>A
ENST00000366578.6:c.352G>A MANE Select	ENSP00000355537.4:p.Gly118Ser
ENST00000492634.6:n.447G>A
ENST00000542672.6:c.352G>A	ENSP00000443495.1:p.Gly118Ser
ENST00000651091.1:c.295G>A	ENSP00000498677.1:p.Gly99Ser
ENST00000651187.1:c.136G>A	ENSP00000498348.1:p.Gly46Ser
ENST00000651275.1:c.337G>A	ENSP00000498926.1:p.Gly113Ser
ENST00000651786.1:c.352G>A	ENSP00000498364.1:p.Gly118Ser
ENST00000652096.1:c.352G>A	ENSP00000498896.1:p.Gly118Ser
ENST00000366578.5:c.352G>A	ENSP00000355537.4:p.Gly118Ser
ENST00000492634.5:n.499G>A
ENST00000542672.5:c.352G>A	ENSP00000443495.1:p.Gly118Ser
ENST00000546208.5:c.-470G>A	ENSP00000438384.2:n.-470G>A
NM_001103.3:c.352G>A	NP_001094.1:p.Gly118Ser
NM_001278343.1:c.352G>A	NP_001265272.1:p.Gly118Ser
NM_001278344.1:c.-470G>A	NP_001265273.1:n.-470G>A
NM_001278343.2:c.352G>A	NP_001265272.1:p.Gly118Ser
NM_001103.4:c.352G>A MANE Select	NP_001094.1:p.Gly118Ser
NM_001278344.2:c.-470G>A	NP_001265273.1:n.-470G>A