Canonical Allele Identifier: CA345392197

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925806C>G (hg19) ; chr1:g.236762506C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762506C>G , CM000663.2:g.236762506C>G	GRCh38
NC_000001.10:g.236925806C>G , CM000663.1:g.236925806C>G	GRCh37
NC_000001.9:g.234992429C>G	NCBI36
NG_009081.1:g.81037C>G
NG_009081.2:g.103366C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2572C>G	ENSP00000443495.1:p.Gln858Glu
ENST00000461367.2:n.868C>G
ENST00000492634.7:n.2502C>G
ENST00000682015.1:c.2479C>G	ENSP00000506961.1:p.Gln827Glu
ENST00000682490.1:n.490C>G
ENST00000682692.1:n.3667C>G
ENST00000682966.1:n.8213C>G
ENST00000683111.1:c.*1858C>G	ENSP00000507913.1:n.*1858C>G
ENST00000683322.1:n.3924C>G
ENST00000683805.1:n.1363C>G
ENST00000684050.1:n.5210C>G
ENST00000684122.1:n.2006C>G
ENST00000684286.1:n.4127C>G
ENST00000684502.1:n.3869C>G
ENST00000684763.1:n.1187C>G
ENST00000366578.6:c.2572C>G MANE Select	ENSP00000355537.4:p.Gln858Glu
ENST00000492634.6:n.2502C>G
ENST00000542672.6:c.2572C>G	ENSP00000443495.1:p.Gln858Glu
ENST00000651091.1:c.2262C>G	ENSP00000498677.1:n.2262C>G
ENST00000651275.1:c.2464C>G	ENSP00000498926.1:p.Gln822Glu
ENST00000651781.1:c.1652C>G
ENST00000651786.1:c.*1944C>G	ENSP00000498364.1:n.*1944C>G
ENST00000652096.1:c.*1977C>G	ENSP00000498896.1:n.*1977C>G
ENST00000366578.5:c.2572C>G	ENSP00000355537.4:p.Gln858Glu
ENST00000461367.1:n.781C>G
ENST00000542672.5:c.2572C>G	ENSP00000443495.1:p.Gln858Glu
ENST00000546208.5:c.1948C>G	ENSP00000438384.2:p.Gln650Glu
NM_001103.3:c.2572C>G	NP_001094.1:p.Gln858Glu
NM_001278343.1:c.2572C>G	NP_001265272.1:p.Gln858Glu
NM_001278344.1:c.1948C>G	NP_001265273.1:p.Gln650Glu
NM_001278343.2:c.2572C>G	NP_001265272.1:p.Gln858Glu
NM_001103.4:c.2572C>G MANE Select	NP_001094.1:p.Gln858Glu
NM_001278344.2:c.1948C>G	NP_001265273.1:p.Gln650Glu