Canonical Allele Identifier: CA346209786

Gene: SNX17

Linked Data

• dbSNP Id: rs1164560767
• gnomAD v2: 2-27597992-C-T
• gnomAD v4: 2-27375125-C-T
• COSMIC: COSM1690330
• MyVariant Identifiers: chr2:g.27597992C>T (hg19) ; chr2:g.27375125C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375125C>T , CM000664.2:g.27375125C>T	GRCh38
NC_000002.11:g.27597992C>T , CM000664.1:g.27597992C>T	GRCh37
NC_000002.10:g.27451496C>T	NCBI36
NG_009305.1:g.333G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.746C>T MANE Select	ENSP00000233575.2:p.Ser249Phe
ENST00000233575.6:c.746C>T	ENSP00000233575.2:p.Ser249Phe
ENST00000427123.5:c.*556C>T	ENSP00000405399.1:n.*556C>T
ENST00000440760.5:c.*591C>T	ENSP00000399727.1:n.*591C>T
ENST00000453453.1:c.*273C>T	ENSP00000401922.1:n.*273C>T
ENST00000493711.1:n.463C>T
ENST00000494893.5:n.922C>T
ENST00000537606.5:c.671C>T	ENSP00000439208.1:p.Ser224Phe
NM_001267059.1:c.710C>T	NP_001253988.1:p.Ser237Phe
NM_001267060.1:c.671C>T	NP_001253989.1:p.Ser224Phe
NM_001267061.1:c.686C>T	NP_001253990.1:p.Ser229Phe
NM_014748.3:c.746C>T	NP_055563.1:p.Ser249Phe
NR_049782.1:n.1119C>T
NR_049783.1:n.1092C>T
NR_049784.1:n.1068C>T
NR_049785.1:n.1001C>T
NR_049786.1:n.950C>T
NR_049787.1:n.801C>T
NR_049788.1:n.731C>T
XM_011533203.1:c.104C>T	XP_011531505.1:p.Ser35Phe
XM_011533203.2:c.104C>T	XP_011531505.1:p.Ser35Phe
XM_017005405.2:c.104C>T	XP_016860894.1:p.Ser35Phe
NM_014748.4:c.746C>T MANE Select	NP_055563.1:p.Ser249Phe
NM_001267059.2:c.710C>T	NP_001253988.1:p.Ser237Phe
NM_001267061.2:c.686C>T	NP_001253990.1:p.Ser229Phe
NR_049782.2:n.999C>T
NR_049783.2:n.972C>T
NR_049784.2:n.948C>T
NR_049785.2:n.881C>T
NR_049786.2:n.830C>T
NR_049787.2:n.681C>T
NR_049788.2:n.611C>T
NM_001267060.2:c.671C>T	NP_001253989.1:p.Ser224Phe