Canonical Allele Identifier: CA371986422

Gene: ENY2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.109336182A>G , CM000670.2:g.109336182A>G	GRCh38
NC_000008.10:g.110348411A>G , CM000670.1:g.110348411A>G	GRCh37
NC_000008.9:g.110417587A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_020189.6:c.61A>G MANE Select	NP_064574.1:p.Ile21Val
ENST00000521688.6:c.61A>G MANE Select	ENSP00000429986.1:p.Ile21Val
NM_001193557.1:c.46A>G	NP_001180486.1:p.Ile16Val
NM_001193557.2:c.46A>G	NP_001180486.1:p.Ile16Val
NM_020189.5:c.61A>G	NP_064574.1:p.Ile21Val
NR_036471.1:n.207A>G
NR_036471.2:n.183A>G
NR_036472.1:n.207A>G
NR_036472.2:n.183A>G
ENST00000339942.11:c.46A>G	ENSP00000339861.7:p.Ile16Val
ENST00000517311.5:c.61A>G	ENSP00000429196.1:p.Ile21Val
ENST00000517350.5:n.1802A>G
ENST00000517756.5:n.162A>G
ENST00000518584.5:n.153A>G
ENST00000519754.5:n.112A>G
ENST00000520147.5:c.46A>G	ENSP00000429588.1:p.Ile16Val
ENST00000521662.5:c.46A>G	ENSP00000429713.1:p.Ile16Val
ENST00000521688.5:c.61A>G	ENSP00000429986.1:p.Ile21Val
ENST00000522407.5:n.128+1708A>G
ENST00000522632.1:n.181A>G
ENST00000522766.5:c.46A>G	ENSP00000428514.1:p.Ile16Val
ENST00000523335.1:c.61A>G	ENSP00000429670.1:p.Ile21Val
ENST00000523707.1:n.257A>G