Canonical Allele Identifier: CA346209805

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598001A>T (hg19) ; chr2:g.27375134A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375134A>T , CM000664.2:g.27375134A>T	GRCh38
NC_000002.11:g.27598001A>T , CM000664.1:g.27598001A>T	GRCh37
NC_000002.10:g.27451505A>T	NCBI36
NG_009305.1:g.324T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.755A>T MANE Select	ENSP00000233575.2:p.Glu252Val
ENST00000233575.6:c.755A>T	ENSP00000233575.2:p.Glu252Val
ENST00000427123.5:c.*565A>T	ENSP00000405399.1:n.*565A>T
ENST00000440760.5:c.*600A>T	ENSP00000399727.1:n.*600A>T
ENST00000453453.1:c.*282A>T	ENSP00000401922.1:n.*282A>T
ENST00000493711.1:n.472A>T
ENST00000494893.5:n.931A>T
ENST00000537606.5:c.680A>T	ENSP00000439208.1:p.Glu227Val
NM_001267059.1:c.719A>T	NP_001253988.1:p.Glu240Val
NM_001267060.1:c.680A>T	NP_001253989.1:p.Glu227Val
NM_001267061.1:c.695A>T	NP_001253990.1:p.Glu232Val
NM_014748.3:c.755A>T	NP_055563.1:p.Glu252Val
NR_049782.1:n.1128A>T
NR_049783.1:n.1101A>T
NR_049784.1:n.1077A>T
NR_049785.1:n.1010A>T
NR_049786.1:n.959A>T
NR_049787.1:n.810A>T
NR_049788.1:n.740A>T
XM_011533203.1:c.113A>T	XP_011531505.1:p.Glu38Val
XM_011533203.2:c.113A>T	XP_011531505.1:p.Glu38Val
XM_017005405.2:c.113A>T	XP_016860894.1:p.Glu38Val
NM_014748.4:c.755A>T MANE Select	NP_055563.1:p.Glu252Val
NM_001267059.2:c.719A>T	NP_001253988.1:p.Glu240Val
NM_001267061.2:c.695A>T	NP_001253990.1:p.Glu232Val
NR_049782.2:n.1008A>T
NR_049783.2:n.981A>T
NR_049784.2:n.957A>T
NR_049785.2:n.890A>T
NR_049786.2:n.839A>T
NR_049787.2:n.690A>T
NR_049788.2:n.620A>T
NM_001267060.2:c.680A>T	NP_001253989.1:p.Glu227Val