Canonical Allele Identifier: CA346209698

Gene: SNX17

Linked Data

• dbSNP Id: rs780775476
• gnomAD v3: 2-27375086-G-A
• gnomAD v4: 2-27375086-G-A
• MyVariant Identifiers: chr2:g.27597953G>A (hg19) ; chr2:g.27375086G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375086G>A , CM000664.2:g.27375086G>A	GRCh38
NC_000002.11:g.27597953G>A , CM000664.1:g.27597953G>A	GRCh37
NC_000002.10:g.27451457G>A	NCBI36
NG_009305.1:g.372C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.707G>A MANE Select	ENSP00000233575.2:p.Trp236Ter
ENST00000233575.6:c.707G>A	ENSP00000233575.2:p.Trp236Ter
ENST00000427123.5:c.*517G>A	ENSP00000405399.1:n.*517G>A
ENST00000440760.5:c.*552G>A	ENSP00000399727.1:n.*552G>A
ENST00000453453.1:c.*234G>A	ENSP00000401922.1:n.*234G>A
ENST00000493711.1:n.424G>A
ENST00000494893.5:n.883G>A
ENST00000537606.5:c.632G>A	ENSP00000439208.1:p.Trp211Ter
NM_001267059.1:c.671G>A	NP_001253988.1:p.Trp224Ter
NM_001267060.1:c.632G>A	NP_001253989.1:p.Trp211Ter
NM_001267061.1:c.647G>A	NP_001253990.1:p.Trp216Ter
NM_014748.3:c.707G>A	NP_055563.1:p.Trp236Ter
NR_049782.1:n.1080G>A
NR_049783.1:n.1053G>A
NR_049784.1:n.1029G>A
NR_049785.1:n.962G>A
NR_049786.1:n.911G>A
NR_049787.1:n.762G>A
NR_049788.1:n.692G>A
XM_011533203.1:c.65G>A	XP_011531505.1:p.Trp22Ter
XM_011533203.2:c.65G>A	XP_011531505.1:p.Trp22Ter
XM_017005405.2:c.65G>A	XP_016860894.1:p.Trp22Ter
NM_014748.4:c.707G>A MANE Select	NP_055563.1:p.Trp236Ter
NM_001267059.2:c.671G>A	NP_001253988.1:p.Trp224Ter
NM_001267061.2:c.647G>A	NP_001253990.1:p.Trp216Ter
NR_049782.2:n.960G>A
NR_049783.2:n.933G>A
NR_049784.2:n.909G>A
NR_049785.2:n.842G>A
NR_049786.2:n.791G>A
NR_049787.2:n.642G>A
NR_049788.2:n.572G>A
NM_001267060.2:c.632G>A	NP_001253989.1:p.Trp211Ter