Canonical Allele Identifier: CA1577396

Gene: SNX17

Linked Data

• dbSNP Id: rs747689756
• ExAC: 2:27597954 G / T
• gnomAD v2: 2-27597954-G-T
• gnomAD v4: 2-27375087-G-T
• COSMIC: COSM3839285
• MyVariant Identifiers: chr2:g.27597954G>T (hg19) ; chr2:g.27375087G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375087G>T , CM000664.2:g.27375087G>T	GRCh38
NC_000002.11:g.27597954G>T , CM000664.1:g.27597954G>T	GRCh37
NC_000002.10:g.27451458G>T	NCBI36
NG_009305.1:g.371C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.708G>T MANE Select	ENSP00000233575.2:p.Trp236Cys
ENST00000233575.6:c.708G>T	ENSP00000233575.2:p.Trp236Cys
ENST00000427123.5:c.*518G>T	ENSP00000405399.1:n.*518G>T
ENST00000440760.5:c.*553G>T	ENSP00000399727.1:n.*553G>T
ENST00000453453.1:c.*235G>T	ENSP00000401922.1:n.*235G>T
ENST00000493711.1:n.425G>T
ENST00000494893.5:n.884G>T
ENST00000537606.5:c.633G>T	ENSP00000439208.1:p.Trp211Cys
NM_001267059.1:c.672G>T	NP_001253988.1:p.Trp224Cys
NM_001267060.1:c.633G>T	NP_001253989.1:p.Trp211Cys
NM_001267061.1:c.648G>T	NP_001253990.1:p.Trp216Cys
NM_014748.3:c.708G>T	NP_055563.1:p.Trp236Cys
NR_049782.1:n.1081G>T
NR_049783.1:n.1054G>T
NR_049784.1:n.1030G>T
NR_049785.1:n.963G>T
NR_049786.1:n.912G>T
NR_049787.1:n.763G>T
NR_049788.1:n.693G>T
XM_011533203.1:c.66G>T	XP_011531505.1:p.Trp22Cys
XM_011533203.2:c.66G>T	XP_011531505.1:p.Trp22Cys
XM_017005405.2:c.66G>T	XP_016860894.1:p.Trp22Cys
NM_014748.4:c.708G>T MANE Select	NP_055563.1:p.Trp236Cys
NM_001267059.2:c.672G>T	NP_001253988.1:p.Trp224Cys
NM_001267061.2:c.648G>T	NP_001253990.1:p.Trp216Cys
NR_049782.2:n.961G>T
NR_049783.2:n.934G>T
NR_049784.2:n.910G>T
NR_049785.2:n.843G>T
NR_049786.2:n.792G>T
NR_049787.2:n.643G>T
NR_049788.2:n.573G>T
NM_001267060.2:c.633G>T	NP_001253989.1:p.Trp211Cys