Canonical Allele Identifier: CA140266912

Gene: EYS

Linked Data

• ClinVar Variation Id: 1937073
• ClinVar RCV Id: RCV002627571
• dbSNP Id: rs932600050
• gnomAD v2: 6-64694392-T-C
• gnomAD v4: 6-63984499-T-C
• MyVariant Identifiers: chr6:g.64694392T>C (hg19) ; chr6:g.63984499T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984499T>C , CM000668.2:g.63984499T>C	GRCh38
NC_000006.11:g.64694392T>C , CM000668.1:g.64694392T>C	GRCh37
NC_000006.10:g.64752351T>C	NCBI36
NG_023443.1:g.1727727A>G
NG_023443.2:g.1727727A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6939A>G MANE Select	ENSP00000424243.1:p.Gln2313=
ENST00000370616.6:c.6939A>G	ENSP00000359650.2:p.Gln2313=
ENST00000370618.7:c.6939A>G	ENSP00000359652.4:p.Gln2313=
ENST00000370621.7:c.6939A>G	ENSP00000359655.3:p.Gln2313=
ENST00000398580.3:c.253A>G
ENST00000503581.5:c.6939A>G	ENSP00000424243.1:p.Gln2313=
NM_001142800.1:c.6939A>G	NP_001136272.1:p.Gln2313=
NM_001292009.1:c.6939A>G	NP_001278938.1:p.Gln2313=
XR_001744188.1:n.606+16215T>C
XR_001744189.1:n.129+16215T>C
XR_001744190.1:n.197+16215T>C
XR_001744191.1:n.607-1155T>C
NM_001142800.2:c.6939A>G MANE Select	NP_001136272.1:p.Gln2313=
NM_001292009.2:c.6939A>G	NP_001278938.1:p.Gln2313=