Canonical Allele Identifier: CA450758763
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 2171955
ClinVar RCV Id: RCV003087185
dbSNP Id: rs1442251335
gnomAD v2: 6-64940513-T-C
gnomAD v3: 6-64230620-T-C
gnomAD v4: 6-64230620-T-C
MyVariant Identifiers: chr6:g.64940513T>C (hg19) chr6:g.64230620T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64230620T>C , CM000668.2:g.64230620T>C GRCh38
NC_000006.11:g.64940513T>C , CM000668.1:g.64940513T>C GRCh37
NC_000006.10:g.64998472T>C NCBI36
NG_023443.1:g.1481606A>G
NG_023443.2:g.1481606A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.6396A>G MANE Select ENSP00000424243.1:p.Leu2132=
ENST00000370616.6:c.6396A>G ENSP00000359650.2:p.Leu2132=
ENST00000370618.7:c.6396A>G ENSP00000359652.4:p.Leu2132=
ENST00000370621.7:c.6396A>G ENSP00000359655.3:p.Leu2132=
ENST00000503581.5:c.6396A>G ENSP00000424243.1:p.Leu2132=
NM_001142800.1:c.6396A>G NP_001136272.1:p.Leu2132=
NM_001292009.1:c.6396A>G NP_001278938.1:p.Leu2132=
NM_001142800.2:c.6396A>G MANE Select NP_001136272.1:p.Leu2132=
NM_001292009.2:c.6396A>G NP_001278938.1:p.Leu2132=
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