Canonical Allele Identifier: CA3876923

Gene: EYS

Linked Data

• ClinVar Variation Id: 992112
• ClinVar RCV Id: RCV001280434 ; RCV001511153
• dbSNP Id: rs149332790
• ExAC: 6:64940515 G / A
• gnomAD v2: 6-64940515-G-A
• gnomAD v3: 6-64230622-G-A
• gnomAD v4: 6-64230622-G-A
• MyVariant Identifiers: chr6:g.64940515G>A (hg19) ; chr6:g.64230622G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230622G>A , CM000668.2:g.64230622G>A	GRCh38
NC_000006.11:g.64940515G>A , CM000668.1:g.64940515G>A	GRCh37
NC_000006.10:g.64998474G>A	NCBI36
NG_023443.1:g.1481604C>T
NG_023443.2:g.1481604C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6394C>T MANE Select	ENSP00000424243.1:p.Leu2132=
ENST00000370616.6:c.6394C>T	ENSP00000359650.2:p.Leu2132=
ENST00000370618.7:c.6394C>T	ENSP00000359652.4:p.Leu2132=
ENST00000370621.7:c.6394C>T	ENSP00000359655.3:p.Leu2132=
ENST00000503581.5:c.6394C>T	ENSP00000424243.1:p.Leu2132=
NM_001142800.1:c.6394C>T	NP_001136272.1:p.Leu2132=
NM_001292009.1:c.6394C>T	NP_001278938.1:p.Leu2132=
NM_001142800.2:c.6394C>T MANE Select	NP_001136272.1:p.Leu2132=
NM_001292009.2:c.6394C>T	NP_001278938.1:p.Leu2132=