Canonical Allele Identifier: CA3876924
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 940482
ClinVar RCV Id: RCV001210078
dbSNP Id: rs746829106
ExAC: 6:64940535 G / C
gnomAD v2: 6-64940535-G-C
gnomAD v4: 6-64230642-G-C
MyVariant Identifiers: chr6:g.64940535G>C (hg19) chr6:g.64230642G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64230642G>C , CM000668.2:g.64230642G>C GRCh38
NC_000006.11:g.64940535G>C , CM000668.1:g.64940535G>C GRCh37
NC_000006.10:g.64998494G>C NCBI36
NG_023443.1:g.1481584C>G
NG_023443.2:g.1481584C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.6374C>G MANE Select ENSP00000424243.1:p.Ser2125Ter
ENST00000370616.6:c.6374C>G ENSP00000359650.2:p.Ser2125Ter
ENST00000370618.7:c.6374C>G ENSP00000359652.4:p.Ser2125Ter
ENST00000370621.7:c.6374C>G ENSP00000359655.3:p.Ser2125Ter
ENST00000503581.5:c.6374C>G ENSP00000424243.1:p.Ser2125Ter
NM_001142800.1:c.6374C>G NP_001136272.1:p.Ser2125Ter
NM_001292009.1:c.6374C>G NP_001278938.1:p.Ser2125Ter
NM_001142800.2:c.6374C>G MANE Select NP_001136272.1:p.Ser2125Ter
NM_001292009.2:c.6374C>G NP_001278938.1:p.Ser2125Ter
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