Canonical Allele Identifier: CA364388876

Gene: EYS

Linked Data

• ClinVar Variation Id: 2441312
• ClinVar RCV Id: RCV003147141
• dbSNP Id: rs1177305926
• gnomAD v2: 6-64694427-C-G
• gnomAD v3: 6-63984534-C-G
• gnomAD v4: 6-63984534-C-G
• MyVariant Identifiers: chr6:g.64694427C>G (hg19) ; chr6:g.63984534C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984534C>G , CM000668.2:g.63984534C>G	GRCh38
NC_000006.11:g.64694427C>G , CM000668.1:g.64694427C>G	GRCh37
NC_000006.10:g.64752386C>G	NCBI36
NG_023443.1:g.1727692G>C
NG_023443.2:g.1727692G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6904G>C MANE Select	ENSP00000424243.1:p.Val2302Leu
ENST00000370616.6:c.6904G>C	ENSP00000359650.2:p.Val2302Leu
ENST00000370618.7:c.6904G>C	ENSP00000359652.4:p.Val2302Leu
ENST00000370621.7:c.6904G>C	ENSP00000359655.3:p.Val2302Leu
ENST00000398580.3:c.218G>C
ENST00000503581.5:c.6904G>C	ENSP00000424243.1:p.Val2302Leu
NM_001142800.1:c.6904G>C	NP_001136272.1:p.Val2302Leu
NM_001292009.1:c.6904G>C	NP_001278938.1:p.Val2302Leu
XR_001744188.1:n.606+16250C>G
XR_001744189.1:n.129+16250C>G
XR_001744190.1:n.197+16250C>G
XR_001744191.1:n.607-1120C>G
NM_001142800.2:c.6904G>C MANE Select	NP_001136272.1:p.Val2302Leu
NM_001292009.2:c.6904G>C	NP_001278938.1:p.Val2302Leu