Canonical Allele Identifier: CA364788942

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.65490592A>G , CM000668.2:g.65490592A>G	GRCh38
NC_000006.11:g.66200485A>G , CM000668.1:g.66200485A>G	GRCh37
NC_000006.10:g.66257206A>G	NCBI36
NG_023443.1:g.221634T>C
NG_023443.2:g.221634T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001142800.2:c.862+2T>C MANE Select	NP_001136272.1:n.862+2T>C
ENST00000503581.6:c.862+2T>C MANE Select	ENSP00000424243.1:n.862+2T>C
NM_001142800.1:c.862+2T>C	NP_001136272.1:n.862+2T>C
NM_001142801.1:c.862+2T>C	NP_001136273.1:n.862+2T>C
NM_001142801.2:c.862+2T>C	NP_001136273.1:n.862+2T>C
NM_001292009.1:c.862+2T>C	NP_001278938.1:n.862+2T>C
NM_001292009.2:c.862+2T>C	NP_001278938.1:n.862+2T>C
NM_198283.1:c.862+2T>C	NP_938024.1:n.862+2T>C
NM_198283.2:c.862+2T>C	NP_938024.1:n.862+2T>C
ENST00000342421.9:c.862+2T>C	ENSP00000341818.5:n.862+2T>C
ENST00000370616.6:c.862+2T>C	ENSP00000359650.2:n.862+2T>C
ENST00000370618.7:c.862+2T>C	ENSP00000359652.4:n.862+2T>C
ENST00000370621.7:c.862+2T>C	ENSP00000359655.3:n.862+2T>C
ENST00000393380.6:c.862+2T>C	ENSP00000377042.2:n.862+2T>C
ENST00000489873.1:n.1391T>C
ENST00000503581.5:c.862+2T>C	ENSP00000424243.1:n.862+2T>C