Canonical Allele Identifier: CA1577397

Gene: SNX17

Linked Data

• dbSNP Id: rs769156199
• ExAC: 2:27597960 G / A
• gnomAD v2: 2-27597960-G-A
• MyVariant Identifiers: chr2:g.27597960G>A (hg19) ; chr2:g.27375093G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375093G>A , CM000664.2:g.27375093G>A	GRCh38
NC_000002.11:g.27597960G>A , CM000664.1:g.27597960G>A	GRCh37
NC_000002.10:g.27451464G>A	NCBI36
NG_009305.1:g.365C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.714G>A MANE Select	ENSP00000233575.2:p.Leu238=
ENST00000233575.6:c.714G>A	ENSP00000233575.2:p.Leu238=
ENST00000427123.5:c.*524G>A	ENSP00000405399.1:n.*524G>A
ENST00000440760.5:c.*559G>A	ENSP00000399727.1:n.*559G>A
ENST00000453453.1:c.*241G>A	ENSP00000401922.1:n.*241G>A
ENST00000493711.1:n.431G>A
ENST00000494893.5:n.890G>A
ENST00000537606.5:c.639G>A	ENSP00000439208.1:p.Leu213=
NM_001267059.1:c.678G>A	NP_001253988.1:p.Leu226=
NM_001267060.1:c.639G>A	NP_001253989.1:p.Leu213=
NM_001267061.1:c.654G>A	NP_001253990.1:p.Leu218=
NM_014748.3:c.714G>A	NP_055563.1:p.Leu238=
NR_049782.1:n.1087G>A
NR_049783.1:n.1060G>A
NR_049784.1:n.1036G>A
NR_049785.1:n.969G>A
NR_049786.1:n.918G>A
NR_049787.1:n.769G>A
NR_049788.1:n.699G>A
XM_011533203.1:c.72G>A	XP_011531505.1:p.Leu24=
XM_011533203.2:c.72G>A	XP_011531505.1:p.Leu24=
XM_017005405.2:c.72G>A	XP_016860894.1:p.Leu24=
NM_014748.4:c.714G>A MANE Select	NP_055563.1:p.Leu238=
NM_001267059.2:c.678G>A	NP_001253988.1:p.Leu226=
NM_001267061.2:c.654G>A	NP_001253990.1:p.Leu218=
NR_049782.2:n.967G>A
NR_049783.2:n.940G>A
NR_049784.2:n.916G>A
NR_049785.2:n.849G>A
NR_049786.2:n.798G>A
NR_049787.2:n.649G>A
NR_049788.2:n.579G>A
NM_001267060.2:c.639G>A	NP_001253989.1:p.Leu213=