Canonical Allele Identifier: CA1577404

Gene: SNX17

Linked Data

• dbSNP Id: rs776958458
• ExAC: 2:27598009 T / A
• gnomAD v2: 2-27598009-T-A
• gnomAD v4: 2-27375142-T-A
• MyVariant Identifiers: chr2:g.27598009T>A (hg19) ; chr2:g.27375142T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375142T>A , CM000664.2:g.27375142T>A	GRCh38
NC_000002.11:g.27598009T>A , CM000664.1:g.27598009T>A	GRCh37
NC_000002.10:g.27451513T>A	NCBI36
NG_009305.1:g.316A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.763T>A MANE Select	ENSP00000233575.2:p.Ser255Thr
ENST00000233575.6:c.763T>A	ENSP00000233575.2:p.Ser255Thr
ENST00000427123.5:c.*573T>A	ENSP00000405399.1:n.*573T>A
ENST00000440760.5:c.*608T>A	ENSP00000399727.1:n.*608T>A
ENST00000453453.1:c.*290T>A	ENSP00000401922.1:n.*290T>A
ENST00000493711.1:n.480T>A
ENST00000494893.5:n.939T>A
ENST00000537606.5:c.688T>A	ENSP00000439208.1:p.Ser230Thr
NM_001267059.1:c.727T>A	NP_001253988.1:p.Ser243Thr
NM_001267060.1:c.688T>A	NP_001253989.1:p.Ser230Thr
NM_001267061.1:c.703T>A	NP_001253990.1:p.Ser235Thr
NM_014748.3:c.763T>A	NP_055563.1:p.Ser255Thr
NR_049782.1:n.1136T>A
NR_049783.1:n.1109T>A
NR_049784.1:n.1085T>A
NR_049785.1:n.1018T>A
NR_049786.1:n.967T>A
NR_049787.1:n.818T>A
NR_049788.1:n.748T>A
XM_011533203.1:c.121T>A	XP_011531505.1:p.Ser41Thr
XM_011533203.2:c.121T>A	XP_011531505.1:p.Ser41Thr
XM_017005405.2:c.121T>A	XP_016860894.1:p.Ser41Thr
NM_014748.4:c.763T>A MANE Select	NP_055563.1:p.Ser255Thr
NM_001267059.2:c.727T>A	NP_001253988.1:p.Ser243Thr
NM_001267061.2:c.703T>A	NP_001253990.1:p.Ser235Thr
NR_049782.2:n.1016T>A
NR_049783.2:n.989T>A
NR_049784.2:n.965T>A
NR_049785.2:n.898T>A
NR_049786.2:n.847T>A
NR_049787.2:n.698T>A
NR_049788.2:n.628T>A
NM_001267060.2:c.688T>A	NP_001253989.1:p.Ser230Thr