Canonical Allele Identifier: CA364391472
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 1986931
ClinVar RCV Id: RCV002805634 RCV003465833
dbSNP Id: rs1276354912
gnomAD v2: 6-64940639-C-T
gnomAD v3: 6-64230746-C-T
gnomAD v4: 6-64230746-C-T
MyVariant Identifiers: chr6:g.64940639C>T (hg19) chr6:g.64230746C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64230746C>T , CM000668.2:g.64230746C>T GRCh38
NC_000006.11:g.64940639C>T , CM000668.1:g.64940639C>T GRCh37
NC_000006.10:g.64998598C>T NCBI36
NG_023443.1:g.1481480G>A
NG_023443.2:g.1481480G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.6270G>A MANE Select ENSP00000424243.1:p.Trp2090Ter
ENST00000370616.6:c.6270G>A ENSP00000359650.2:p.Trp2090Ter
ENST00000370618.7:c.6270G>A ENSP00000359652.4:p.Trp2090Ter
ENST00000370621.7:c.6270G>A ENSP00000359655.3:p.Trp2090Ter
ENST00000503581.5:c.6270G>A ENSP00000424243.1:p.Trp2090Ter
NM_001142800.1:c.6270G>A NP_001136272.1:p.Trp2090Ter
NM_001292009.1:c.6270G>A NP_001278938.1:p.Trp2090Ter
NM_001142800.2:c.6270G>A MANE Select NP_001136272.1:p.Trp2090Ter
NM_001292009.2:c.6270G>A NP_001278938.1:p.Trp2090Ter
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