Canonical Allele Identifier: CA364385451

Gene: EYS

Linked Data

• COSMIC: COSM5935122
• MyVariant Identifiers: chr6:g.64498103T>C (hg19) ; chr6:g.63788210T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63788210T>C , CM000668.2:g.63788210T>C	GRCh38
NC_000006.11:g.64498103T>C , CM000668.1:g.64498103T>C	GRCh37
NC_000006.10:g.64556062T>C	NCBI36
NG_023443.1:g.1924016A>G
NG_023443.2:g.1924016A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7618A>G MANE Select	ENSP00000424243.1:p.Arg2540Gly
ENST00000370616.6:c.7618A>G	ENSP00000359650.2:p.Arg2540Gly
ENST00000370618.7:c.7618A>G	ENSP00000359652.4:p.Arg2540Gly
ENST00000370621.7:c.7618A>G	ENSP00000359655.3:p.Arg2540Gly
ENST00000398580.3:c.932A>G
ENST00000486069.1:n.258A>G
ENST00000503581.5:c.7618A>G	ENSP00000424243.1:p.Arg2540Gly
NM_001142800.1:c.7618A>G	NP_001136272.1:p.Arg2540Gly
NM_001292009.1:c.7618A>G	NP_001278938.1:p.Arg2540Gly
NM_001142800.2:c.7618A>G MANE Select	NP_001136272.1:p.Arg2540Gly
NM_001292009.2:c.7618A>G	NP_001278938.1:p.Arg2540Gly