Canonical Allele Identifier: CA221547

Gene: EYS

Linked Data

• ClinVar Variation Id: 93621
• ClinVar RCV Id: RCV000177866 ; RCV000210330 ; RCV000504744 ; RCV001376198
• dbSNP Id: rs398123575
• ExAC: 6:64574212 A / C
• gnomAD v2: 6-64574212-A-C
• gnomAD v3: 6-63864319-A-C
• gnomAD v4: 6-63864319-A-C
• MyVariant Identifiers: chr6:g.64574212A>C (hg19) ; chr6:g.63864319A>C (hg38)
• PubMed: PMID:20537394 ; PMID:23891399 ; PMID:26872967 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63864319A>C , CM000668.2:g.63864319A>C	GRCh38
NC_000006.11:g.64574212A>C , CM000668.1:g.64574212A>C	GRCh37
NC_000006.10:g.64632171A>C	NCBI36
NG_023443.1:g.1847907T>G
NG_023443.2:g.1847907T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7095T>G MANE Select	ENSP00000424243.1:p.Tyr2365Ter
ENST00000370616.6:c.7095T>G	ENSP00000359650.2:p.Tyr2365Ter
ENST00000370618.7:c.7095T>G	ENSP00000359652.4:p.Tyr2365Ter
ENST00000370621.7:c.7095T>G	ENSP00000359655.3:p.Tyr2365Ter
ENST00000398580.3:c.409T>G
ENST00000503581.5:c.7095T>G	ENSP00000424243.1:p.Tyr2365Ter
NM_001142800.1:c.7095T>G	NP_001136272.1:p.Tyr2365Ter
NM_001292009.1:c.7095T>G	NP_001278938.1:p.Tyr2365Ter
NM_001142800.2:c.7095T>G MANE Select	NP_001136272.1:p.Tyr2365Ter
NM_001292009.2:c.7095T>G	NP_001278938.1:p.Tyr2365Ter