Canonical Allele Identifier: CA346209674

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597941T>A (hg19) ; chr2:g.27375074T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.695T>A MANE Select	ENSP00000233575.2:p.Ile232Asn
ENST00000233575.6:c.695T>A	ENSP00000233575.2:p.Ile232Asn
ENST00000427123.5:c.*505T>A	ENSP00000405399.1:n.*505T>A
ENST00000440760.5:c.*540T>A	ENSP00000399727.1:n.*540T>A
ENST00000453453.1:c.*222T>A	ENSP00000401922.1:n.*222T>A
ENST00000493711.1:n.412T>A
ENST00000494893.5:n.871T>A
ENST00000537606.5:c.620T>A	ENSP00000439208.1:p.Ile207Asn
NM_001267059.1:c.659T>A	NP_001253988.1:p.Ile220Asn
NM_001267060.1:c.620T>A	NP_001253989.1:p.Ile207Asn
NM_001267061.1:c.635T>A	NP_001253990.1:p.Ile212Asn
NM_014748.3:c.695T>A	NP_055563.1:p.Ile232Asn
NR_049782.1:n.1068T>A
NR_049783.1:n.1041T>A
NR_049784.1:n.1017T>A
NR_049785.1:n.950T>A
NR_049786.1:n.899T>A
NR_049787.1:n.750T>A
NR_049788.1:n.680T>A
XM_011533203.1:c.53T>A	XP_011531505.1:p.Ile18Asn
XM_011533203.2:c.53T>A	XP_011531505.1:p.Ile18Asn
XM_017005405.2:c.53T>A	XP_016860894.1:p.Ile18Asn
NM_014748.4:c.695T>A MANE Select	NP_055563.1:p.Ile232Asn
NM_001267059.2:c.659T>A	NP_001253988.1:p.Ile220Asn
NM_001267061.2:c.635T>A	NP_001253990.1:p.Ile212Asn
NR_049782.2:n.948T>A
NR_049783.2:n.921T>A
NR_049784.2:n.897T>A
NR_049785.2:n.830T>A
NR_049786.2:n.779T>A
NR_049787.2:n.630T>A
NR_049788.2:n.560T>A
NM_001267060.2:c.620T>A	NP_001253989.1:p.Ile207Asn