Canonical Allele Identifier: CA450744277

Gene: EYS

Linked Data

• ClinVar Variation Id: 1138519
• ClinVar RCV Id: RCV001474890 ; RCV001826305 ; RCV003888194
• dbSNP Id: rs1357255596
• gnomAD v2: 6-64694443-A-G
• gnomAD v4: 6-63984550-A-G
• COSMIC: COSM5750190
• MyVariant Identifiers: chr6:g.64694443A>G (hg19) ; chr6:g.63984550A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984550A>G , CM000668.2:g.63984550A>G	GRCh38
NC_000006.11:g.64694443A>G , CM000668.1:g.64694443A>G	GRCh37
NC_000006.10:g.64752402A>G	NCBI36
NG_023443.1:g.1727676T>C
NG_023443.2:g.1727676T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6888T>C MANE Select	ENSP00000424243.1:p.His2296=
ENST00000370616.6:c.6888T>C	ENSP00000359650.2:p.His2296=
ENST00000370618.7:c.6888T>C	ENSP00000359652.4:p.His2296=
ENST00000370621.7:c.6888T>C	ENSP00000359655.3:p.His2296=
ENST00000398580.3:c.202T>C
ENST00000503581.5:c.6888T>C	ENSP00000424243.1:p.His2296=
NM_001142800.1:c.6888T>C	NP_001136272.1:p.His2296=
NM_001292009.1:c.6888T>C	NP_001278938.1:p.His2296=
XR_001744188.1:n.606+16266A>G
XR_001744189.1:n.129+16266A>G
XR_001744190.1:n.197+16266A>G
XR_001744191.1:n.607-1104A>G
NM_001142800.2:c.6888T>C MANE Select	NP_001136272.1:p.His2296=
NM_001292009.2:c.6888T>C	NP_001278938.1:p.His2296=