Canonical Allele Identifier: CA346209969

Gene: SNX17

Linked Data

• dbSNP Id: rs1683107861
• gnomAD v3: 2-27375510-T-G
• gnomAD v4: 2-27375510-T-G
• MyVariant Identifiers: chr2:g.27598377T>G (hg19) ; chr2:g.27375510T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375510T>G , CM000664.2:g.27375510T>G	GRCh38
NC_000002.11:g.27598377T>G , CM000664.1:g.27598377T>G	GRCh37
NC_000002.10:g.27451881T>G	NCBI36
NG_028219.1:g.10235A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.779T>G MANE Select	ENSP00000233575.2:p.Leu260Arg
ENST00000233575.6:c.779T>G	ENSP00000233575.2:p.Leu260Arg
ENST00000427123.5:c.*589T>G	ENSP00000405399.1:n.*589T>G
ENST00000440760.5:c.*624T>G	ENSP00000399727.1:n.*624T>G
ENST00000453453.1:c.*306T>G	ENSP00000401922.1:n.*306T>G
ENST00000493711.1:n.496T>G
ENST00000494893.5:n.955T>G
ENST00000537606.5:c.704T>G	ENSP00000439208.1:p.Leu235Arg
NM_001267059.1:c.743T>G	NP_001253988.1:p.Leu248Arg
NM_001267060.1:c.704T>G	NP_001253989.1:p.Leu235Arg
NM_001267061.1:c.719T>G	NP_001253990.1:p.Leu240Arg
NM_014748.3:c.779T>G	NP_055563.1:p.Leu260Arg
NR_049782.1:n.1152T>G
NR_049783.1:n.1125T>G
NR_049784.1:n.1101T>G
NR_049785.1:n.1034T>G
NR_049786.1:n.983T>G
NR_049787.1:n.834T>G
NR_049788.1:n.764T>G
XM_011533203.1:c.137T>G	XP_011531505.1:p.Leu46Arg
XM_011533203.2:c.137T>G	XP_011531505.1:p.Leu46Arg
XM_017005405.2:c.137T>G	XP_016860894.1:p.Leu46Arg
NM_014748.4:c.779T>G MANE Select	NP_055563.1:p.Leu260Arg
NM_001267059.2:c.743T>G	NP_001253988.1:p.Leu248Arg
NM_001267061.2:c.719T>G	NP_001253990.1:p.Leu240Arg
NR_049782.2:n.1032T>G
NR_049783.2:n.1005T>G
NR_049784.2:n.981T>G
NR_049785.2:n.914T>G
NR_049786.2:n.863T>G
NR_049787.2:n.714T>G
NR_049788.2:n.644T>G
NM_001267060.2:c.704T>G	NP_001253989.1:p.Leu235Arg