Canonical Allele Identifier: CA423811093

Gene: ACTN2

Linked Data

• dbSNP Id: rs1659736110
• gnomAD v3: 1-236762472-G-T
• gnomAD v4: 1-236762472-G-T
• MyVariant Identifiers: chr1:g.236925772G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762472G>T , CM000663.2:g.236762472G>T	GRCh38
NC_000001.10:g.236925772G>T , CM000663.1:g.236925772G>T	GRCh37
NC_000001.9:g.234992395G>T	NCBI36
NG_009081.1:g.81003G>T
NG_009081.2:g.103332G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2538G>T	ENSP00000443495.1:p.Leu846=
ENST00000461367.2:n.834G>T
ENST00000492634.7:n.2468G>T
ENST00000682015.1:c.2445G>T	ENSP00000506961.1:p.Leu815=
ENST00000682490.1:n.456G>T
ENST00000682692.1:n.3633G>T
ENST00000682966.1:n.8179G>T
ENST00000683111.1:c.*1824G>T	ENSP00000507913.1:n.*1824G>T
ENST00000683322.1:n.3890G>T
ENST00000683805.1:n.1329G>T
ENST00000684050.1:n.5176G>T
ENST00000684122.1:n.1972G>T
ENST00000684286.1:n.4093G>T
ENST00000684502.1:n.3835G>T
ENST00000684763.1:n.1153G>T
ENST00000366578.6:c.2538G>T MANE Select	ENSP00000355537.4:p.Leu846=
ENST00000492634.6:n.2468G>T
ENST00000542672.6:c.2538G>T	ENSP00000443495.1:p.Leu846=
ENST00000651091.1:c.2228G>T	ENSP00000498677.1:n.2228G>T
ENST00000651275.1:c.2430G>T	ENSP00000498926.1:p.Leu810=
ENST00000651781.1:c.1618G>T
ENST00000651786.1:c.*1910G>T	ENSP00000498364.1:n.*1910G>T
ENST00000652096.1:c.*1943G>T	ENSP00000498896.1:n.*1943G>T
ENST00000366578.5:c.2538G>T	ENSP00000355537.4:p.Leu846=
ENST00000461367.1:n.747G>T
ENST00000542672.5:c.2538G>T	ENSP00000443495.1:p.Leu846=
ENST00000546208.5:c.1914G>T	ENSP00000438384.2:p.Leu638=
NM_001103.3:c.2538G>T	NP_001094.1:p.Leu846=
NM_001278343.1:c.2538G>T	NP_001265272.1:p.Leu846=
NM_001278344.1:c.1914G>T	NP_001265273.1:p.Leu638=
NM_001278343.2:c.2538G>T	NP_001265272.1:p.Leu846=
NM_001103.4:c.2538G>T MANE Select	NP_001094.1:p.Leu846=
NM_001278344.2:c.1914G>T	NP_001265273.1:p.Leu638=