Canonical Allele Identifier: CA346210046

Gene: SNX17

Linked Data

• dbSNP Id: rs1300175880
• gnomAD v2: 2-27598400-C-G
• gnomAD v4: 2-27375533-C-G
• MyVariant Identifiers: chr2:g.27598400C>G (hg19) ; chr2:g.27375533C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375533C>G , CM000664.2:g.27375533C>G	GRCh38
NC_000002.11:g.27598400C>G , CM000664.1:g.27598400C>G	GRCh37
NC_000002.10:g.27451904C>G	NCBI36
NG_028219.1:g.10212G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.802C>G MANE Select	ENSP00000233575.2:p.His268Asp
ENST00000233575.6:c.802C>G	ENSP00000233575.2:p.His268Asp
ENST00000427123.5:c.*612C>G	ENSP00000405399.1:n.*612C>G
ENST00000440760.5:c.*647C>G	ENSP00000399727.1:n.*647C>G
ENST00000453453.1:c.*329C>G	ENSP00000401922.1:n.*329C>G
ENST00000493711.1:n.519C>G
ENST00000537606.5:c.727C>G	ENSP00000439208.1:p.His243Asp
NM_001267059.1:c.766C>G	NP_001253988.1:p.His256Asp
NM_001267060.1:c.727C>G	NP_001253989.1:p.His243Asp
NM_001267061.1:c.742C>G	NP_001253990.1:p.His248Asp
NM_014748.3:c.802C>G	NP_055563.1:p.His268Asp
NR_049782.1:n.1175C>G
NR_049783.1:n.1148C>G
NR_049784.1:n.1124C>G
NR_049785.1:n.1057C>G
NR_049786.1:n.1006C>G
NR_049787.1:n.857C>G
NR_049788.1:n.787C>G
XM_011533203.1:c.160C>G	XP_011531505.1:p.His54Asp
XM_011533203.2:c.160C>G	XP_011531505.1:p.His54Asp
XM_017005405.2:c.160C>G	XP_016860894.1:p.His54Asp
NM_014748.4:c.802C>G MANE Select	NP_055563.1:p.His268Asp
NM_001267059.2:c.766C>G	NP_001253988.1:p.His256Asp
NM_001267061.2:c.742C>G	NP_001253990.1:p.His248Asp
NR_049782.2:n.1055C>G
NR_049783.2:n.1028C>G
NR_049784.2:n.1004C>G
NR_049785.2:n.937C>G
NR_049786.2:n.886C>G
NR_049787.2:n.737C>G
NR_049788.2:n.667C>G
NM_001267060.2:c.727C>G	NP_001253989.1:p.His243Asp