Canonical Allele Identifier: CA423811243

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236762586-C-T
• MyVariant Identifiers: chr1:g.236925886C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762586C>T , CM000663.2:g.236762586C>T	GRCh38
NC_000001.10:g.236925886C>T , CM000663.1:g.236925886C>T	GRCh37
NC_000001.9:g.234992509C>T	NCBI36
NG_009081.1:g.81117C>T
NG_009081.2:g.103446C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2652C>T	ENSP00000443495.1:p.Phe884=
ENST00000461367.2:n.948C>T
ENST00000492634.7:n.2582C>T
ENST00000682015.1:c.2559C>T	ENSP00000506961.1:p.Phe853=
ENST00000682490.1:n.570C>T
ENST00000682692.1:n.3747C>T
ENST00000682966.1:n.8293C>T
ENST00000683111.1:c.*1938C>T	ENSP00000507913.1:n.*1938C>T
ENST00000683322.1:n.4004C>T
ENST00000683805.1:n.1443C>T
ENST00000684050.1:n.5290C>T
ENST00000684122.1:n.2086C>T
ENST00000684286.1:n.4207C>T
ENST00000684502.1:n.3949C>T
ENST00000684763.1:n.1267C>T
ENST00000366578.6:c.2652C>T MANE Select	ENSP00000355537.4:p.Phe884=
ENST00000492634.6:n.2582C>T
ENST00000542672.6:c.2652C>T	ENSP00000443495.1:p.Phe884=
ENST00000651091.1:c.2342C>T	ENSP00000498677.1:n.2342C>T
ENST00000651275.1:c.2544C>T	ENSP00000498926.1:p.Phe848=
ENST00000651781.1:c.1732C>T
ENST00000651786.1:c.*2024C>T	ENSP00000498364.1:n.*2024C>T
ENST00000652096.1:c.*2057C>T	ENSP00000498896.1:n.*2057C>T
ENST00000366578.5:c.2652C>T	ENSP00000355537.4:p.Phe884=
ENST00000542672.5:c.2652C>T	ENSP00000443495.1:p.Phe884=
ENST00000546208.5:c.2028C>T	ENSP00000438384.2:p.Phe676=
NM_001103.3:c.2652C>T	NP_001094.1:p.Phe884=
NM_001278343.1:c.2652C>T	NP_001265272.1:p.Phe884=
NM_001278344.1:c.2028C>T	NP_001265273.1:p.Phe676=
NM_001278343.2:c.2652C>T	NP_001265272.1:p.Phe884=
NM_001103.4:c.2652C>T MANE Select	NP_001094.1:p.Phe884=
NM_001278344.2:c.2028C>T	NP_001265273.1:p.Phe676=