Canonical Allele Identifier: CA345392557

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925869C>G (hg19) ; chr1:g.236762569C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762569C>G , CM000663.2:g.236762569C>G	GRCh38
NC_000001.10:g.236925869C>G , CM000663.1:g.236925869C>G	GRCh37
NC_000001.9:g.234992492C>G	NCBI36
NG_009081.1:g.81100C>G
NG_009081.2:g.103429C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2635C>G	ENSP00000443495.1:p.Leu879Val
ENST00000461367.2:n.931C>G
ENST00000492634.7:n.2565C>G
ENST00000682015.1:c.2542C>G	ENSP00000506961.1:p.Leu848Val
ENST00000682490.1:n.553C>G
ENST00000682692.1:n.3730C>G
ENST00000682966.1:n.8276C>G
ENST00000683111.1:c.*1921C>G	ENSP00000507913.1:n.*1921C>G
ENST00000683322.1:n.3987C>G
ENST00000683805.1:n.1426C>G
ENST00000684050.1:n.5273C>G
ENST00000684122.1:n.2069C>G
ENST00000684286.1:n.4190C>G
ENST00000684502.1:n.3932C>G
ENST00000684763.1:n.1250C>G
ENST00000366578.6:c.2635C>G MANE Select	ENSP00000355537.4:p.Leu879Val
ENST00000492634.6:n.2565C>G
ENST00000542672.6:c.2635C>G	ENSP00000443495.1:p.Leu879Val
ENST00000651091.1:c.2325C>G	ENSP00000498677.1:n.2325C>G
ENST00000651275.1:c.2527C>G	ENSP00000498926.1:p.Leu843Val
ENST00000651781.1:c.1715C>G
ENST00000651786.1:c.*2007C>G	ENSP00000498364.1:n.*2007C>G
ENST00000652096.1:c.*2040C>G	ENSP00000498896.1:n.*2040C>G
ENST00000366578.5:c.2635C>G	ENSP00000355537.4:p.Leu879Val
ENST00000542672.5:c.2635C>G	ENSP00000443495.1:p.Leu879Val
ENST00000546208.5:c.2011C>G	ENSP00000438384.2:p.Leu671Val
NM_001103.3:c.2635C>G	NP_001094.1:p.Leu879Val
NM_001278343.1:c.2635C>G	NP_001265272.1:p.Leu879Val
NM_001278344.1:c.2011C>G	NP_001265273.1:p.Leu671Val
NM_001278343.2:c.2635C>G	NP_001265272.1:p.Leu879Val
NM_001103.4:c.2635C>G MANE Select	NP_001094.1:p.Leu879Val
NM_001278344.2:c.2011C>G	NP_001265273.1:p.Leu671Val