Canonical Allele Identifier: CA140266927
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 2048552
dbSNP Id: rs1035817053
gnomAD v3: 6-63984599-T-C
gnomAD v4: 6-63984599-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.63984599T>C , CM000668.2:g.63984599T>C GRCh38
NC_000006.11:g.64694492T>C , CM000668.1:g.64694492T>C GRCh37
NC_000006.10:g.64752451T>C NCBI36
NG_023443.1:g.1727627A>G
NG_023443.2:g.1727627A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.6839A>G MANE Select ENSP00000424243.1:p.Tyr2280Cys
ENST00000370616.6:c.6839A>G ENSP00000359650.2:p.Tyr2280Cys
ENST00000370618.7:c.6839A>G ENSP00000359652.4:p.Tyr2280Cys
ENST00000370621.7:c.6839A>G ENSP00000359655.3:p.Tyr2280Cys
ENST00000398580.3:c.153A>G
ENST00000503581.5:c.6839A>G ENSP00000424243.1:p.Tyr2280Cys
NM_001142800.1:c.6839A>G NP_001136272.1:p.Tyr2280Cys
NM_001292009.1:c.6839A>G NP_001278938.1:p.Tyr2280Cys
XR_001744188.1:n.606+16315T>C
XR_001744189.1:n.129+16315T>C
XR_001744190.1:n.197+16315T>C
XR_001744191.1:n.607-1055T>C
NM_001142800.2:c.6839A>G MANE Select NP_001136272.1:p.Tyr2280Cys
NM_001292009.2:c.6839A>G NP_001278938.1:p.Tyr2280Cys