Canonical Allele Identifier: CA345386896

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 2116709
• ClinVar RCV Id: RCV003035143
• gnomAD v4: 1-236754026-G-T
• MyVariant Identifiers: chr1:g.236917326G>T (hg19) ; chr1:g.236754026G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754026G>T , CM000663.2:g.236754026G>T	GRCh38
NC_000001.10:g.236917326G>T , CM000663.1:g.236917326G>T	GRCh37
NC_000001.9:g.234983949G>T	NCBI36
NG_009081.1:g.72557G>T
NG_009081.2:g.94886G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1919G>T	ENSP00000443495.1:p.Arg640Leu
ENST00000461367.2:n.215G>T
ENST00000492634.7:n.1849G>T
ENST00000682015.1:c.1826G>T	ENSP00000506961.1:p.Arg609Leu
ENST00000682692.1:n.3014G>T
ENST00000682966.1:n.7560G>T
ENST00000683111.1:c.*1205G>T	ENSP00000507913.1:n.*1205G>T
ENST00000683322.1:n.3271G>T
ENST00000684050.1:n.4557G>T
ENST00000684286.1:n.3474G>T
ENST00000684502.1:n.3216G>T
ENST00000684763.1:n.534G>T
ENST00000366578.6:c.1919G>T MANE Select	ENSP00000355537.4:p.Arg640Leu
ENST00000492634.6:n.1849G>T
ENST00000542672.6:c.1919G>T	ENSP00000443495.1:p.Arg640Leu
ENST00000651091.1:c.1609G>T	ENSP00000498677.1:n.1609G>T
ENST00000651275.1:c.1811G>T	ENSP00000498926.1:p.Arg604Leu
ENST00000651781.1:c.999G>T
ENST00000651786.1:c.*1291G>T	ENSP00000498364.1:n.*1291G>T
ENST00000652096.1:c.*1324G>T	ENSP00000498896.1:n.*1324G>T
ENST00000366578.5:c.1919G>T	ENSP00000355537.4:p.Arg640Leu
ENST00000461367.1:n.128G>T
ENST00000542672.5:c.1919G>T	ENSP00000443495.1:p.Arg640Leu
ENST00000546208.5:c.1295G>T	ENSP00000438384.2:p.Arg432Leu
NM_001103.3:c.1919G>T	NP_001094.1:p.Arg640Leu
NM_001278343.1:c.1919G>T	NP_001265272.1:p.Arg640Leu
NM_001278344.1:c.1295G>T	NP_001265273.1:p.Arg432Leu
NM_001278343.2:c.1919G>T	NP_001265272.1:p.Arg640Leu
NM_001103.4:c.1919G>T MANE Select	NP_001094.1:p.Arg640Leu
NM_001278344.2:c.1295G>T	NP_001265273.1:p.Arg432Leu