Canonical Allele Identifier: CA345373530

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236882235C>G (hg19) ; chr1:g.236718935C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236718935C>G , CM000663.2:g.236718935C>G	GRCh38
NC_000001.10:g.236882235C>G , CM000663.1:g.236882235C>G	GRCh37
NC_000001.9:g.234948858C>G	NCBI36
NG_009081.1:g.37466C>G
NG_009081.2:g.59795C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.283C>G	ENSP00000443495.1:p.His95Asp
ENST00000492634.7:n.378C>G
ENST00000494762.2:n.32C>G
ENST00000682015.1:c.283C>G	ENSP00000506961.1:p.His95Asp
ENST00000682692.1:n.283C>G
ENST00000682966.1:n.282C>G
ENST00000683075.1:n.222C>G
ENST00000683111.1:c.226C>G	ENSP00000507913.1:p.His76Asp
ENST00000684050.1:n.318C>G
ENST00000684286.1:n.351C>G
ENST00000684502.1:n.318C>G
ENST00000366578.6:c.283C>G MANE Select	ENSP00000355537.4:p.His95Asp
ENST00000492634.6:n.378C>G
ENST00000542672.6:c.283C>G	ENSP00000443495.1:p.His95Asp
ENST00000651091.1:c.226C>G	ENSP00000498677.1:p.His76Asp
ENST00000651187.1:c.67C>G	ENSP00000498348.1:p.His23Asp
ENST00000651275.1:c.268C>G	ENSP00000498926.1:p.His90Asp
ENST00000651786.1:c.283C>G	ENSP00000498364.1:p.His95Asp
ENST00000652096.1:c.283C>G	ENSP00000498896.1:p.His95Asp
ENST00000366578.5:c.283C>G	ENSP00000355537.4:p.His95Asp
ENST00000492634.5:n.430C>G
ENST00000542672.5:c.283C>G	ENSP00000443495.1:p.His95Asp
ENST00000546208.5:c.-539C>G	ENSP00000438384.2:n.-539C>G
NM_001103.3:c.283C>G	NP_001094.1:p.His95Asp
NM_001278343.1:c.283C>G	NP_001265272.1:p.His95Asp
NM_001278344.1:c.-539C>G	NP_001265273.1:n.-539C>G
NM_001278343.2:c.283C>G	NP_001265272.1:p.His95Asp
NM_001103.4:c.283C>G MANE Select	NP_001094.1:p.His95Asp
NM_001278344.2:c.-539C>G	NP_001265273.1:n.-539C>G