Canonical Allele Identifier: CA346209689

Gene: SNX17

Linked Data

• gnomAD v4: 2-27375082-G-T
• MyVariant Identifiers: chr2:g.27597949G>T (hg19) ; chr2:g.27375082G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.703G>T MANE Select	ENSP00000233575.2:p.Gly235Trp
ENST00000233575.6:c.703G>T	ENSP00000233575.2:p.Gly235Trp
ENST00000427123.5:c.*513G>T	ENSP00000405399.1:n.*513G>T
ENST00000440760.5:c.*548G>T	ENSP00000399727.1:n.*548G>T
ENST00000453453.1:c.*230G>T	ENSP00000401922.1:n.*230G>T
ENST00000493711.1:n.420G>T
ENST00000494893.5:n.879G>T
ENST00000537606.5:c.628G>T	ENSP00000439208.1:p.Gly210Trp
NM_001267059.1:c.667G>T	NP_001253988.1:p.Gly223Trp
NM_001267060.1:c.628G>T	NP_001253989.1:p.Gly210Trp
NM_001267061.1:c.643G>T	NP_001253990.1:p.Gly215Trp
NM_014748.3:c.703G>T	NP_055563.1:p.Gly235Trp
NR_049782.1:n.1076G>T
NR_049783.1:n.1049G>T
NR_049784.1:n.1025G>T
NR_049785.1:n.958G>T
NR_049786.1:n.907G>T
NR_049787.1:n.758G>T
NR_049788.1:n.688G>T
XM_011533203.1:c.61G>T	XP_011531505.1:p.Gly21Trp
XM_011533203.2:c.61G>T	XP_011531505.1:p.Gly21Trp
XM_017005405.2:c.61G>T	XP_016860894.1:p.Gly21Trp
NM_014748.4:c.703G>T MANE Select	NP_055563.1:p.Gly235Trp
NM_001267059.2:c.667G>T	NP_001253988.1:p.Gly223Trp
NM_001267061.2:c.643G>T	NP_001253990.1:p.Gly215Trp
NR_049782.2:n.956G>T
NR_049783.2:n.929G>T
NR_049784.2:n.905G>T
NR_049785.2:n.838G>T
NR_049786.2:n.787G>T
NR_049787.2:n.638G>T
NR_049788.2:n.568G>T
NM_001267060.2:c.628G>T	NP_001253989.1:p.Gly210Trp