Canonical Allele Identifier: CA3876911

Gene: EYS

Linked Data

• ClinVar Variation Id: 438204
• ClinVar RCV Id: RCV000505095 ; RCV001219169 ; RCV001834630
• dbSNP Id: rs777735735
• ExAC: 6:64791847 A / G
• gnomAD v2: 6-64791847-A-G
• gnomAD v3: 6-64081954-A-G
• gnomAD v4: 6-64081954-A-G
• MyVariant Identifiers: chr6:g.64791847A>G (hg19) ; chr6:g.64081954A>G (hg38)
• PubMed: PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64081954A>G , CM000668.2:g.64081954A>G	GRCh38
NC_000006.11:g.64791847A>G , CM000668.1:g.64791847A>G	GRCh37
NC_000006.10:g.64849806A>G	NCBI36
NG_023443.1:g.1630272T>C
NG_023443.2:g.1630272T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6473T>C MANE Select	ENSP00000424243.1:p.Leu2158Pro
ENST00000370616.6:c.6473T>C	ENSP00000359650.2:p.Leu2158Pro
ENST00000370618.7:c.6473T>C	ENSP00000359652.4:p.Leu2158Pro
ENST00000370621.7:c.6473T>C	ENSP00000359655.3:p.Leu2158Pro
ENST00000503581.5:c.6473T>C	ENSP00000424243.1:p.Leu2158Pro
NM_001142800.1:c.6473T>C	NP_001136272.1:p.Leu2158Pro
NM_001292009.1:c.6473T>C	NP_001278938.1:p.Leu2158Pro
NM_001142800.2:c.6473T>C MANE Select	NP_001136272.1:p.Leu2158Pro
NM_001292009.2:c.6473T>C	NP_001278938.1:p.Leu2158Pro