Canonical Allele Identifier: CA450744289

Gene: EYS

Linked Data

• ClinVar Variation Id: 796381
• ClinVar RCV Id: RCV000979762
• dbSNP Id: rs1582080249
• MyVariant Identifiers: chr6:g.64694461A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984568A>G , CM000668.2:g.63984568A>G	GRCh38
NC_000006.11:g.64694461A>G , CM000668.1:g.64694461A>G	GRCh37
NC_000006.10:g.64752420A>G	NCBI36
NG_023443.1:g.1727658T>C
NG_023443.2:g.1727658T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6870T>C MANE Select	ENSP00000424243.1:p.Pro2290=
ENST00000370616.6:c.6870T>C	ENSP00000359650.2:p.Pro2290=
ENST00000370618.7:c.6870T>C	ENSP00000359652.4:p.Pro2290=
ENST00000370621.7:c.6870T>C	ENSP00000359655.3:p.Pro2290=
ENST00000398580.3:c.184T>C
ENST00000503581.5:c.6870T>C	ENSP00000424243.1:p.Pro2290=
NM_001142800.1:c.6870T>C	NP_001136272.1:p.Pro2290=
NM_001292009.1:c.6870T>C	NP_001278938.1:p.Pro2290=
XR_001744188.1:n.606+16284A>G
XR_001744189.1:n.129+16284A>G
XR_001744190.1:n.197+16284A>G
XR_001744191.1:n.607-1086A>G
NM_001142800.2:c.6870T>C MANE Select	NP_001136272.1:p.Pro2290=
NM_001292009.2:c.6870T>C	NP_001278938.1:p.Pro2290=