Canonical Allele Identifier: CA346209743

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597973C>G (hg19) ; chr2:g.27375106C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375106C>G , CM000664.2:g.27375106C>G	GRCh38
NC_000002.11:g.27597973C>G , CM000664.1:g.27597973C>G	GRCh37
NC_000002.10:g.27451477C>G	NCBI36
NG_009305.1:g.352G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.727C>G MANE Select	ENSP00000233575.2:p.Gln243Glu
ENST00000233575.6:c.727C>G	ENSP00000233575.2:p.Gln243Glu
ENST00000427123.5:c.*537C>G	ENSP00000405399.1:n.*537C>G
ENST00000440760.5:c.*572C>G	ENSP00000399727.1:n.*572C>G
ENST00000453453.1:c.*254C>G	ENSP00000401922.1:n.*254C>G
ENST00000493711.1:n.444C>G
ENST00000494893.5:n.903C>G
ENST00000537606.5:c.652C>G	ENSP00000439208.1:p.Gln218Glu
NM_001267059.1:c.691C>G	NP_001253988.1:p.Gln231Glu
NM_001267060.1:c.652C>G	NP_001253989.1:p.Gln218Glu
NM_001267061.1:c.667C>G	NP_001253990.1:p.Gln223Glu
NM_014748.3:c.727C>G	NP_055563.1:p.Gln243Glu
NR_049782.1:n.1100C>G
NR_049783.1:n.1073C>G
NR_049784.1:n.1049C>G
NR_049785.1:n.982C>G
NR_049786.1:n.931C>G
NR_049787.1:n.782C>G
NR_049788.1:n.712C>G
XM_011533203.1:c.85C>G	XP_011531505.1:p.Gln29Glu
XM_011533203.2:c.85C>G	XP_011531505.1:p.Gln29Glu
XM_017005405.2:c.85C>G	XP_016860894.1:p.Gln29Glu
NM_014748.4:c.727C>G MANE Select	NP_055563.1:p.Gln243Glu
NM_001267059.2:c.691C>G	NP_001253988.1:p.Gln231Glu
NM_001267061.2:c.667C>G	NP_001253990.1:p.Gln223Glu
NR_049782.2:n.980C>G
NR_049783.2:n.953C>G
NR_049784.2:n.929C>G
NR_049785.2:n.862C>G
NR_049786.2:n.811C>G
NR_049787.2:n.662C>G
NR_049788.2:n.592C>G
NM_001267060.2:c.652C>G	NP_001253989.1:p.Gln218Glu