Canonical Allele Identifier: CA1577420

Gene: SNX17

Linked Data

• dbSNP Id: rs778950794
• ExAC: 2:27598325 G / A
• gnomAD v2: 2-27598325-G-A
• gnomAD v4: 2-27375458-G-A
• MyVariant Identifiers: chr2:g.27598325G>A (hg19) ; chr2:g.27598325_27598328delinsACCC (hg19) ; chr2:g.27375458G>A (hg38) ; chr2:g.27375458_27375461delinsACCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375458G>A , CM000664.2:g.27375458G>A	GRCh38
NC_000002.11:g.27598325G>A , CM000664.1:g.27598325G>A	GRCh37
NC_000002.10:g.27451829G>A	NCBI36
NG_028219.1:g.10287C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.775-48G>A MANE Select	ENSP00000233575.2:n.775-48G>A
ENST00000233575.6:c.775-48G>A	ENSP00000233575.2:n.775-48G>A
ENST00000427123.5:c.*585-48G>A	ENSP00000405399.1:n.*585-48G>A
ENST00000440760.5:c.*620-48G>A	ENSP00000399727.1:n.*620-48G>A
ENST00000453453.1:c.*302-48G>A	ENSP00000401922.1:n.*302-48G>A
ENST00000493711.1:n.492-48G>A
ENST00000494893.5:n.951-48G>A
ENST00000537606.5:c.700-48G>A	ENSP00000439208.1:n.700-48G>A
NM_001267059.1:c.739-48G>A	NP_001253988.1:n.739-48G>A
NM_001267060.1:c.700-48G>A	NP_001253989.1:n.700-48G>A
NM_001267061.1:c.715-48G>A	NP_001253990.1:n.715-48G>A
NM_014748.3:c.775-48G>A	NP_055563.1:n.775-48G>A
NR_049782.1:n.1148-48G>A
NR_049783.1:n.1121-48G>A
NR_049784.1:n.1097-48G>A
NR_049785.1:n.1030-48G>A
NR_049786.1:n.979-48G>A
NR_049787.1:n.830-48G>A
NR_049788.1:n.760-48G>A
XM_011533203.1:c.133-48G>A	XP_011531505.1:n.133-48G>A
XM_011533203.2:c.133-48G>A	XP_011531505.1:n.133-48G>A
XM_017005405.2:c.133-48G>A	XP_016860894.1:n.133-48G>A
NM_014748.4:c.775-48G>A MANE Select	NP_055563.1:n.775-48G>A
NM_001267059.2:c.739-48G>A	NP_001253988.1:n.739-48G>A
NM_001267061.2:c.715-48G>A	NP_001253990.1:n.715-48G>A
NR_049782.2:n.1028-48G>A
NR_049783.2:n.1001-48G>A
NR_049784.2:n.977-48G>A
NR_049785.2:n.910-48G>A
NR_049786.2:n.859-48G>A
NR_049787.2:n.710-48G>A
NR_049788.2:n.640-48G>A
NM_001267060.2:c.700-48G>A	NP_001253989.1:n.700-48G>A