Canonical Allele Identifier: CA345392501

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925860C>G (hg19) ; chr1:g.236762560C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762560C>G , CM000663.2:g.236762560C>G	GRCh38
NC_000001.10:g.236925860C>G , CM000663.1:g.236925860C>G	GRCh37
NC_000001.9:g.234992483C>G	NCBI36
NG_009081.1:g.81091C>G
NG_009081.2:g.103420C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2626C>G	ENSP00000443495.1:p.Pro876Ala
ENST00000461367.2:n.922C>G
ENST00000492634.7:n.2556C>G
ENST00000682015.1:c.2533C>G	ENSP00000506961.1:p.Pro845Ala
ENST00000682490.1:n.544C>G
ENST00000682692.1:n.3721C>G
ENST00000682966.1:n.8267C>G
ENST00000683111.1:c.*1912C>G	ENSP00000507913.1:n.*1912C>G
ENST00000683322.1:n.3978C>G
ENST00000683805.1:n.1417C>G
ENST00000684050.1:n.5264C>G
ENST00000684122.1:n.2060C>G
ENST00000684286.1:n.4181C>G
ENST00000684502.1:n.3923C>G
ENST00000684763.1:n.1241C>G
ENST00000366578.6:c.2626C>G MANE Select	ENSP00000355537.4:p.Pro876Ala
ENST00000492634.6:n.2556C>G
ENST00000542672.6:c.2626C>G	ENSP00000443495.1:p.Pro876Ala
ENST00000651091.1:c.2316C>G	ENSP00000498677.1:n.2316C>G
ENST00000651275.1:c.2518C>G	ENSP00000498926.1:p.Pro840Ala
ENST00000651781.1:c.1706C>G
ENST00000651786.1:c.*1998C>G	ENSP00000498364.1:n.*1998C>G
ENST00000652096.1:c.*2031C>G	ENSP00000498896.1:n.*2031C>G
ENST00000366578.5:c.2626C>G	ENSP00000355537.4:p.Pro876Ala
ENST00000461367.1:n.835C>G
ENST00000542672.5:c.2626C>G	ENSP00000443495.1:p.Pro876Ala
ENST00000546208.5:c.2002C>G	ENSP00000438384.2:p.Pro668Ala
NM_001103.3:c.2626C>G	NP_001094.1:p.Pro876Ala
NM_001278343.1:c.2626C>G	NP_001265272.1:p.Pro876Ala
NM_001278344.1:c.2002C>G	NP_001265273.1:p.Pro668Ala
NM_001278343.2:c.2626C>G	NP_001265272.1:p.Pro876Ala
NM_001103.4:c.2626C>G MANE Select	NP_001094.1:p.Pro876Ala
NM_001278344.2:c.2002C>G	NP_001265273.1:p.Pro668Ala