Canonical Allele Identifier: CA345392328

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925829G>T (hg19) ; chr1:g.236762529G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762529G>T , CM000663.2:g.236762529G>T	GRCh38
NC_000001.10:g.236925829G>T , CM000663.1:g.236925829G>T	GRCh37
NC_000001.9:g.234992452G>T	NCBI36
NG_009081.1:g.81060G>T
NG_009081.2:g.103389G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2595G>T	ENSP00000443495.1:p.Arg865Ser
ENST00000461367.2:n.891G>T
ENST00000492634.7:n.2525G>T
ENST00000682015.1:c.2502G>T	ENSP00000506961.1:p.Arg834Ser
ENST00000682490.1:n.513G>T
ENST00000682692.1:n.3690G>T
ENST00000682966.1:n.8236G>T
ENST00000683111.1:c.*1881G>T	ENSP00000507913.1:n.*1881G>T
ENST00000683322.1:n.3947G>T
ENST00000683805.1:n.1386G>T
ENST00000684050.1:n.5233G>T
ENST00000684122.1:n.2029G>T
ENST00000684286.1:n.4150G>T
ENST00000684502.1:n.3892G>T
ENST00000684763.1:n.1210G>T
ENST00000366578.6:c.2595G>T MANE Select	ENSP00000355537.4:p.Arg865Ser
ENST00000492634.6:n.2525G>T
ENST00000542672.6:c.2595G>T	ENSP00000443495.1:p.Arg865Ser
ENST00000651091.1:c.2285G>T	ENSP00000498677.1:n.2285G>T
ENST00000651275.1:c.2487G>T	ENSP00000498926.1:p.Arg829Ser
ENST00000651781.1:c.1675G>T
ENST00000651786.1:c.*1967G>T	ENSP00000498364.1:n.*1967G>T
ENST00000652096.1:c.*2000G>T	ENSP00000498896.1:n.*2000G>T
ENST00000366578.5:c.2595G>T	ENSP00000355537.4:p.Arg865Ser
ENST00000461367.1:n.804G>T
ENST00000542672.5:c.2595G>T	ENSP00000443495.1:p.Arg865Ser
ENST00000546208.5:c.1971G>T	ENSP00000438384.2:p.Arg657Ser
NM_001103.3:c.2595G>T	NP_001094.1:p.Arg865Ser
NM_001278343.1:c.2595G>T	NP_001265272.1:p.Arg865Ser
NM_001278344.1:c.1971G>T	NP_001265273.1:p.Arg657Ser
NM_001278343.2:c.2595G>T	NP_001265272.1:p.Arg865Ser
NM_001103.4:c.2595G>T MANE Select	NP_001094.1:p.Arg865Ser
NM_001278344.2:c.1971G>T	NP_001265273.1:p.Arg657Ser