Canonical Allele Identifier: CA450744296

Gene: EYS

Linked Data

• ClinVar Variation Id: 2118107
• ClinVar RCV Id: RCV003030312
• gnomAD v4: 6-63984574-A-G
• MyVariant Identifiers: chr6:g.64694467A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984574A>G , CM000668.2:g.63984574A>G	GRCh38
NC_000006.11:g.64694467A>G , CM000668.1:g.64694467A>G	GRCh37
NC_000006.10:g.64752426A>G	NCBI36
NG_023443.1:g.1727652T>C
NG_023443.2:g.1727652T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6864T>C MANE Select	ENSP00000424243.1:p.His2288=
ENST00000370616.6:c.6864T>C	ENSP00000359650.2:p.His2288=
ENST00000370618.7:c.6864T>C	ENSP00000359652.4:p.His2288=
ENST00000370621.7:c.6864T>C	ENSP00000359655.3:p.His2288=
ENST00000398580.3:c.178T>C
ENST00000503581.5:c.6864T>C	ENSP00000424243.1:p.His2288=
NM_001142800.1:c.6864T>C	NP_001136272.1:p.His2288=
NM_001292009.1:c.6864T>C	NP_001278938.1:p.His2288=
XR_001744188.1:n.606+16290A>G
XR_001744189.1:n.129+16290A>G
XR_001744190.1:n.197+16290A>G
XR_001744191.1:n.607-1080A>G
NM_001142800.2:c.6864T>C MANE Select	NP_001136272.1:p.His2288=
NM_001292009.2:c.6864T>C	NP_001278938.1:p.His2288=