Canonical Allele Identifier: CA240287

Gene: EYS

Linked Data

• ClinVar Variation Id: 194357
• ClinVar RCV Id: RCV000174710 ; RCV000342934 ; RCV000678566 ; RCV001073420 ; RCV001844068
• dbSNP Id: rs201652272
• ExAC: 6:65707500 T / C
• gnomAD v2: 6-65707500-T-C
• gnomAD v3: 6-64997607-T-C
• gnomAD v4: 6-64997607-T-C
• MyVariant Identifiers: chr6:g.65707500T>C (hg19) ; chr6:g.64997607T>C (hg38)
• PubMed: PMID:20333770 ; PMID:21069908 ; PMID:21519034 ; PMID:23891399 ; PMID:26103963

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64997607T>C , CM000668.2:g.64997607T>C	GRCh38
NC_000006.11:g.65707500T>C , CM000668.1:g.65707500T>C	GRCh37
NC_000006.10:g.65764221T>C	NCBI36
NG_023443.1:g.714619A>G
NG_023443.2:g.714619A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.2234A>G MANE Select	ENSP00000424243.1:p.Asn745Ser
ENST00000370616.6:c.2234A>G	ENSP00000359650.2:p.Asn745Ser
ENST00000370618.7:c.2234A>G	ENSP00000359652.4:p.Asn745Ser
ENST00000370621.7:c.2234A>G	ENSP00000359655.3:p.Asn745Ser
ENST00000503581.5:c.2234A>G	ENSP00000424243.1:p.Asn745Ser
NM_001142800.1:c.2234A>G	NP_001136272.1:p.Asn745Ser
NM_001292009.1:c.2234A>G	NP_001278938.1:p.Asn745Ser
NM_001142800.2:c.2234A>G MANE Select	NP_001136272.1:p.Asn745Ser
NM_001292009.2:c.2234A>G	NP_001278938.1:p.Asn745Ser