Canonical Allele Identifier: CA1577432

Gene: SNX17

Linked Data

• dbSNP Id: rs371413421
• ExAC: 2:27598398 G / A
• gnomAD v2: 2-27598398-G-A
• gnomAD v3: 2-27375531-G-A
• gnomAD v4: 2-27375531-G-A
• MyVariant Identifiers: chr2:g.27598398G>A (hg19) ; chr2:g.27375531G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375531G>A , CM000664.2:g.27375531G>A	GRCh38
NC_000002.11:g.27598398G>A , CM000664.1:g.27598398G>A	GRCh37
NC_000002.10:g.27451902G>A	NCBI36
NG_028219.1:g.10214C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.800G>A MANE Select	ENSP00000233575.2:p.Arg267Gln
ENST00000233575.6:c.800G>A	ENSP00000233575.2:p.Arg267Gln
ENST00000427123.5:c.*610G>A	ENSP00000405399.1:n.*610G>A
ENST00000440760.5:c.*645G>A	ENSP00000399727.1:n.*645G>A
ENST00000453453.1:c.*327G>A	ENSP00000401922.1:n.*327G>A
ENST00000493711.1:n.517G>A
ENST00000537606.5:c.725G>A	ENSP00000439208.1:p.Arg242Gln
NM_001267059.1:c.764G>A	NP_001253988.1:p.Arg255Gln
NM_001267060.1:c.725G>A	NP_001253989.1:p.Arg242Gln
NM_001267061.1:c.740G>A	NP_001253990.1:p.Arg247Gln
NM_014748.3:c.800G>A	NP_055563.1:p.Arg267Gln
NR_049782.1:n.1173G>A
NR_049783.1:n.1146G>A
NR_049784.1:n.1122G>A
NR_049785.1:n.1055G>A
NR_049786.1:n.1004G>A
NR_049787.1:n.855G>A
NR_049788.1:n.785G>A
XM_011533203.1:c.158G>A	XP_011531505.1:p.Arg53Gln
XM_011533203.2:c.158G>A	XP_011531505.1:p.Arg53Gln
XM_017005405.2:c.158G>A	XP_016860894.1:p.Arg53Gln
NM_014748.4:c.800G>A MANE Select	NP_055563.1:p.Arg267Gln
NM_001267059.2:c.764G>A	NP_001253988.1:p.Arg255Gln
NM_001267061.2:c.740G>A	NP_001253990.1:p.Arg247Gln
NR_049782.2:n.1053G>A
NR_049783.2:n.1026G>A
NR_049784.2:n.1002G>A
NR_049785.2:n.935G>A
NR_049786.2:n.884G>A
NR_049787.2:n.735G>A
NR_049788.2:n.665G>A
NM_001267060.2:c.725G>A	NP_001253989.1:p.Arg242Gln