Canonical Allele Identifier: CA345387550

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236755093-C-G
• MyVariant Identifiers: chr1:g.236918393C>G (hg19) ; chr1:g.236755093C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755093C>G , CM000663.2:g.236755093C>G	GRCh38
NC_000001.10:g.236918393C>G , CM000663.1:g.236918393C>G	GRCh37
NC_000001.9:g.234985016C>G	NCBI36
NG_009081.1:g.73624C>G
NG_009081.2:g.95953C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2049C>G	ENSP00000443495.1:p.His683Gln
ENST00000461367.2:n.345C>G
ENST00000492634.7:n.1979C>G
ENST00000682015.1:c.1956C>G	ENSP00000506961.1:p.His652Gln
ENST00000682692.1:n.3144C>G
ENST00000682966.1:n.7690C>G
ENST00000683111.1:c.*1335C>G	ENSP00000507913.1:n.*1335C>G
ENST00000683322.1:n.3401C>G
ENST00000683805.1:n.840C>G
ENST00000684050.1:n.4687C>G
ENST00000684122.1:n.196C>G
ENST00000684286.1:n.3604C>G
ENST00000684502.1:n.3346C>G
ENST00000684763.1:n.664C>G
ENST00000366578.6:c.2049C>G MANE Select	ENSP00000355537.4:p.His683Gln
ENST00000492634.6:n.1979C>G
ENST00000542672.6:c.2049C>G	ENSP00000443495.1:p.His683Gln
ENST00000651091.1:c.1739C>G	ENSP00000498677.1:n.1739C>G
ENST00000651275.1:c.1941C>G	ENSP00000498926.1:p.His647Gln
ENST00000651781.1:c.1129C>G
ENST00000651786.1:c.*1421C>G	ENSP00000498364.1:n.*1421C>G
ENST00000652096.1:c.*1454C>G	ENSP00000498896.1:n.*1454C>G
ENST00000366578.5:c.2049C>G	ENSP00000355537.4:p.His683Gln
ENST00000461367.1:n.258C>G
ENST00000542672.5:c.2049C>G	ENSP00000443495.1:p.His683Gln
ENST00000546208.5:c.1425C>G	ENSP00000438384.2:p.His475Gln
NM_001103.3:c.2049C>G	NP_001094.1:p.His683Gln
NM_001278343.1:c.2049C>G	NP_001265272.1:p.His683Gln
NM_001278344.1:c.1425C>G	NP_001265273.1:p.His475Gln
NM_001278343.2:c.2049C>G	NP_001265272.1:p.His683Gln
NM_001103.4:c.2049C>G MANE Select	NP_001094.1:p.His683Gln
NM_001278344.2:c.1425C>G	NP_001265273.1:p.His475Gln