Canonical Allele Identifier: CA346209713

Gene: SNX17

Linked Data

• gnomAD v4: 2-27375093-G-C
• MyVariant Identifiers: chr2:g.27597960G>C (hg19) ; chr2:g.27375093G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.714G>C MANE Select	ENSP00000233575.2:p.Leu238Phe
ENST00000233575.6:c.714G>C	ENSP00000233575.2:p.Leu238Phe
ENST00000427123.5:c.*524G>C	ENSP00000405399.1:n.*524G>C
ENST00000440760.5:c.*559G>C	ENSP00000399727.1:n.*559G>C
ENST00000453453.1:c.*241G>C	ENSP00000401922.1:n.*241G>C
ENST00000493711.1:n.431G>C
ENST00000494893.5:n.890G>C
ENST00000537606.5:c.639G>C	ENSP00000439208.1:p.Leu213Phe
NM_001267059.1:c.678G>C	NP_001253988.1:p.Leu226Phe
NM_001267060.1:c.639G>C	NP_001253989.1:p.Leu213Phe
NM_001267061.1:c.654G>C	NP_001253990.1:p.Leu218Phe
NM_014748.3:c.714G>C	NP_055563.1:p.Leu238Phe
NR_049782.1:n.1087G>C
NR_049783.1:n.1060G>C
NR_049784.1:n.1036G>C
NR_049785.1:n.969G>C
NR_049786.1:n.918G>C
NR_049787.1:n.769G>C
NR_049788.1:n.699G>C
XM_011533203.1:c.72G>C	XP_011531505.1:p.Leu24Phe
XM_011533203.2:c.72G>C	XP_011531505.1:p.Leu24Phe
XM_017005405.2:c.72G>C	XP_016860894.1:p.Leu24Phe
NM_014748.4:c.714G>C MANE Select	NP_055563.1:p.Leu238Phe
NM_001267059.2:c.678G>C	NP_001253988.1:p.Leu226Phe
NM_001267061.2:c.654G>C	NP_001253990.1:p.Leu218Phe
NR_049782.2:n.967G>C
NR_049783.2:n.940G>C
NR_049784.2:n.916G>C
NR_049785.2:n.849G>C
NR_049786.2:n.798G>C
NR_049787.2:n.649G>C
NR_049788.2:n.579G>C
NM_001267060.2:c.639G>C	NP_001253989.1:p.Leu213Phe