Canonical Allele Identifier: CA346209770

Gene: SNX17

Linked Data

• dbSNP Id: rs1437987652
• gnomAD v3: 2-27375118-C-T
• gnomAD v4: 2-27375118-C-T
• MyVariant Identifiers: chr2:g.27597985C>T (hg19) ; chr2:g.27375118C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375118C>T , CM000664.2:g.27375118C>T	GRCh38
NC_000002.11:g.27597985C>T , CM000664.1:g.27597985C>T	GRCh37
NC_000002.10:g.27451489C>T	NCBI36
NG_009305.1:g.340G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.739C>T MANE Select	ENSP00000233575.2:p.Leu247Phe
ENST00000233575.6:c.739C>T	ENSP00000233575.2:p.Leu247Phe
ENST00000427123.5:c.*549C>T	ENSP00000405399.1:n.*549C>T
ENST00000440760.5:c.*584C>T	ENSP00000399727.1:n.*584C>T
ENST00000453453.1:c.*266C>T	ENSP00000401922.1:n.*266C>T
ENST00000493711.1:n.456C>T
ENST00000494893.5:n.915C>T
ENST00000537606.5:c.664C>T	ENSP00000439208.1:p.Leu222Phe
NM_001267059.1:c.703C>T	NP_001253988.1:p.Leu235Phe
NM_001267060.1:c.664C>T	NP_001253989.1:p.Leu222Phe
NM_001267061.1:c.679C>T	NP_001253990.1:p.Leu227Phe
NM_014748.3:c.739C>T	NP_055563.1:p.Leu247Phe
NR_049782.1:n.1112C>T
NR_049783.1:n.1085C>T
NR_049784.1:n.1061C>T
NR_049785.1:n.994C>T
NR_049786.1:n.943C>T
NR_049787.1:n.794C>T
NR_049788.1:n.724C>T
XM_011533203.1:c.97C>T	XP_011531505.1:p.Leu33Phe
XM_011533203.2:c.97C>T	XP_011531505.1:p.Leu33Phe
XM_017005405.2:c.97C>T	XP_016860894.1:p.Leu33Phe
NM_014748.4:c.739C>T MANE Select	NP_055563.1:p.Leu247Phe
NM_001267059.2:c.703C>T	NP_001253988.1:p.Leu235Phe
NM_001267061.2:c.679C>T	NP_001253990.1:p.Leu227Phe
NR_049782.2:n.992C>T
NR_049783.2:n.965C>T
NR_049784.2:n.941C>T
NR_049785.2:n.874C>T
NR_049786.2:n.823C>T
NR_049787.2:n.674C>T
NR_049788.2:n.604C>T
NM_001267060.2:c.664C>T	NP_001253989.1:p.Leu222Phe