Canonical Allele Identifier: CA346209690

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597949G>C (hg19) ; chr2:g.27375082G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375082G>C , CM000664.2:g.27375082G>C	GRCh38
NC_000002.11:g.27597949G>C , CM000664.1:g.27597949G>C	GRCh37
NC_000002.10:g.27451453G>C	NCBI36
NG_009305.1:g.376C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.703G>C MANE Select	ENSP00000233575.2:p.Gly235Arg
ENST00000233575.6:c.703G>C	ENSP00000233575.2:p.Gly235Arg
ENST00000427123.5:c.*513G>C	ENSP00000405399.1:n.*513G>C
ENST00000440760.5:c.*548G>C	ENSP00000399727.1:n.*548G>C
ENST00000453453.1:c.*230G>C	ENSP00000401922.1:n.*230G>C
ENST00000493711.1:n.420G>C
ENST00000494893.5:n.879G>C
ENST00000537606.5:c.628G>C	ENSP00000439208.1:p.Gly210Arg
NM_001267059.1:c.667G>C	NP_001253988.1:p.Gly223Arg
NM_001267060.1:c.628G>C	NP_001253989.1:p.Gly210Arg
NM_001267061.1:c.643G>C	NP_001253990.1:p.Gly215Arg
NM_014748.3:c.703G>C	NP_055563.1:p.Gly235Arg
NR_049782.1:n.1076G>C
NR_049783.1:n.1049G>C
NR_049784.1:n.1025G>C
NR_049785.1:n.958G>C
NR_049786.1:n.907G>C
NR_049787.1:n.758G>C
NR_049788.1:n.688G>C
XM_011533203.1:c.61G>C	XP_011531505.1:p.Gly21Arg
XM_011533203.2:c.61G>C	XP_011531505.1:p.Gly21Arg
XM_017005405.2:c.61G>C	XP_016860894.1:p.Gly21Arg
NM_014748.4:c.703G>C MANE Select	NP_055563.1:p.Gly235Arg
NM_001267059.2:c.667G>C	NP_001253988.1:p.Gly223Arg
NM_001267061.2:c.643G>C	NP_001253990.1:p.Gly215Arg
NR_049782.2:n.956G>C
NR_049783.2:n.929G>C
NR_049784.2:n.905G>C
NR_049785.2:n.838G>C
NR_049786.2:n.787G>C
NR_049787.2:n.638G>C
NR_049788.2:n.568G>C
NM_001267060.2:c.628G>C	NP_001253989.1:p.Gly210Arg