Canonical Allele Identifier: CA346209675

Gene: SNX17

Linked Data

• dbSNP Id: rs758854166
• gnomAD v2: 2-27597941-T-G
• gnomAD v4: 2-27375074-T-G
• MyVariant Identifiers: chr2:g.27597941T>G (hg19) ; chr2:g.27375074T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375074T>G , CM000664.2:g.27375074T>G	GRCh38
NC_000002.11:g.27597941T>G , CM000664.1:g.27597941T>G	GRCh37
NC_000002.10:g.27451445T>G	NCBI36
NG_009305.1:g.384A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.695T>G MANE Select	ENSP00000233575.2:p.Ile232Ser
ENST00000233575.6:c.695T>G	ENSP00000233575.2:p.Ile232Ser
ENST00000427123.5:c.*505T>G	ENSP00000405399.1:n.*505T>G
ENST00000440760.5:c.*540T>G	ENSP00000399727.1:n.*540T>G
ENST00000453453.1:c.*222T>G	ENSP00000401922.1:n.*222T>G
ENST00000493711.1:n.412T>G
ENST00000494893.5:n.871T>G
ENST00000537606.5:c.620T>G	ENSP00000439208.1:p.Ile207Ser
NM_001267059.1:c.659T>G	NP_001253988.1:p.Ile220Ser
NM_001267060.1:c.620T>G	NP_001253989.1:p.Ile207Ser
NM_001267061.1:c.635T>G	NP_001253990.1:p.Ile212Ser
NM_014748.3:c.695T>G	NP_055563.1:p.Ile232Ser
NR_049782.1:n.1068T>G
NR_049783.1:n.1041T>G
NR_049784.1:n.1017T>G
NR_049785.1:n.950T>G
NR_049786.1:n.899T>G
NR_049787.1:n.750T>G
NR_049788.1:n.680T>G
XM_011533203.1:c.53T>G	XP_011531505.1:p.Ile18Ser
XM_011533203.2:c.53T>G	XP_011531505.1:p.Ile18Ser
XM_017005405.2:c.53T>G	XP_016860894.1:p.Ile18Ser
NM_014748.4:c.695T>G MANE Select	NP_055563.1:p.Ile232Ser
NM_001267059.2:c.659T>G	NP_001253988.1:p.Ile220Ser
NM_001267061.2:c.635T>G	NP_001253990.1:p.Ile212Ser
NR_049782.2:n.948T>G
NR_049783.2:n.921T>G
NR_049784.2:n.897T>G
NR_049785.2:n.830T>G
NR_049786.2:n.779T>G
NR_049787.2:n.630T>G
NR_049788.2:n.560T>G
NM_001267060.2:c.620T>G	NP_001253989.1:p.Ile207Ser