Canonical Allele Identifier: CA364384882

Gene: EYS

Linked Data

• ClinVar Variation Id: 1007961
• ClinVar RCV Id: RCV001305221 ; RCV001835476
• dbSNP Id: rs1770414327
• gnomAD v4: 6-63788144-G-C
• MyVariant Identifiers: chr6:g.64498037G>C (hg19) ; chr6:g.63788144G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63788144G>C , CM000668.2:g.63788144G>C	GRCh38
NC_000006.11:g.64498037G>C , CM000668.1:g.64498037G>C	GRCh37
NC_000006.10:g.64555996G>C	NCBI36
NG_023443.1:g.1924082C>G
NG_023443.2:g.1924082C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7684C>G MANE Select	ENSP00000424243.1:p.Leu2562Val
ENST00000370616.6:c.7684C>G	ENSP00000359650.2:p.Leu2562Val
ENST00000370618.7:c.7684C>G	ENSP00000359652.4:p.Leu2562Val
ENST00000370621.7:c.7684C>G	ENSP00000359655.3:p.Leu2562Val
ENST00000398580.3:c.998C>G
ENST00000486069.1:n.324C>G
ENST00000503581.5:c.7684C>G	ENSP00000424243.1:p.Leu2562Val
NM_001142800.1:c.7684C>G	NP_001136272.1:p.Leu2562Val
NM_001292009.1:c.7684C>G	NP_001278938.1:p.Leu2562Val
NM_001142800.2:c.7684C>G MANE Select	NP_001136272.1:p.Leu2562Val
NM_001292009.2:c.7684C>G	NP_001278938.1:p.Leu2562Val