Canonical Allele Identifier: CA364391145

Gene: EYS

Linked Data

• ClinVar Variation Id: 1439751
• ClinVar RCV Id: RCV001950239
• dbSNP Id: rs1455868871
• gnomAD v2: 6-64940490-T-C
• gnomAD v4: 6-64230597-T-C
• MyVariant Identifiers: chr6:g.64940490T>C (hg19) ; chr6:g.64230597T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230597T>C , CM000668.2:g.64230597T>C	GRCh38
NC_000006.11:g.64940490T>C , CM000668.1:g.64940490T>C	GRCh37
NC_000006.10:g.64998449T>C	NCBI36
NG_023443.1:g.1481629A>G
NG_023443.2:g.1481629A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6419A>G MANE Select	ENSP00000424243.1:p.Glu2140Gly
ENST00000370616.6:c.6419A>G	ENSP00000359650.2:p.Glu2140Gly
ENST00000370618.7:c.6419A>G	ENSP00000359652.4:p.Glu2140Gly
ENST00000370621.7:c.6419A>G	ENSP00000359655.3:p.Glu2140Gly
ENST00000503581.5:c.6419A>G	ENSP00000424243.1:p.Glu2140Gly
NM_001142800.1:c.6419A>G	NP_001136272.1:p.Glu2140Gly
NM_001292009.1:c.6419A>G	NP_001278938.1:p.Glu2140Gly
NM_001142800.2:c.6419A>G MANE Select	NP_001136272.1:p.Glu2140Gly
NM_001292009.2:c.6419A>G	NP_001278938.1:p.Glu2140Gly