Canonical Allele Identifier: CA3876860

Gene: EYS

Linked Data

• ClinVar Variation Id: 2023602
• ClinVar RCV Id: RCV002875892
• dbSNP Id: rs779378377
• ExAC: 6:64694344 C / G
• gnomAD v2: 6-64694344-C-G
• gnomAD v3: 6-63984451-C-G
• gnomAD v4: 6-63984451-C-G
• MyVariant Identifiers: chr6:g.64694344C>G (hg19) ; chr6:g.63984451C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984451C>G , CM000668.2:g.63984451C>G	GRCh38
NC_000006.11:g.64694344C>G , CM000668.1:g.64694344C>G	GRCh37
NC_000006.10:g.64752303C>G	NCBI36
NG_023443.1:g.1727775G>C
NG_023443.2:g.1727775G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6987G>C MANE Select	ENSP00000424243.1:p.Lys2329Asn
ENST00000370616.6:c.6987G>C	ENSP00000359650.2:p.Lys2329Asn
ENST00000370618.7:c.6987G>C	ENSP00000359652.4:p.Lys2329Asn
ENST00000370621.7:c.6987G>C	ENSP00000359655.3:p.Lys2329Asn
ENST00000398580.3:c.301G>C
ENST00000503581.5:c.6987G>C	ENSP00000424243.1:p.Lys2329Asn
NM_001142800.1:c.6987G>C	NP_001136272.1:p.Lys2329Asn
NM_001292009.1:c.6987G>C	NP_001278938.1:p.Lys2329Asn
XR_001744188.1:n.606+16167C>G
XR_001744189.1:n.129+16167C>G
XR_001744190.1:n.197+16167C>G
XR_001744191.1:n.607-1203C>G
NM_001142800.2:c.6987G>C MANE Select	NP_001136272.1:p.Lys2329Asn
NM_001292009.2:c.6987G>C	NP_001278938.1:p.Lys2329Asn