Canonical Allele Identifier: CA44524719

Gene: SNX17

Linked Data

• dbSNP Id: rs1038494023
• gnomAD v2: 2-27598401-A-G
• gnomAD v4: 2-27375534-A-G
• MyVariant Identifiers: chr2:g.27598401A>G (hg19) ; chr2:g.27375534A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375534A>G , CM000664.2:g.27375534A>G	GRCh38
NC_000002.11:g.27598401A>G , CM000664.1:g.27598401A>G	GRCh37
NC_000002.10:g.27451905A>G	NCBI36
NG_028219.1:g.10211T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.803A>G MANE Select	ENSP00000233575.2:p.His268Arg
ENST00000233575.6:c.803A>G	ENSP00000233575.2:p.His268Arg
ENST00000427123.5:c.*613A>G	ENSP00000405399.1:n.*613A>G
ENST00000440760.5:c.*648A>G	ENSP00000399727.1:n.*648A>G
ENST00000453453.1:c.*330A>G	ENSP00000401922.1:n.*330A>G
ENST00000493711.1:n.520A>G
ENST00000537606.5:c.728A>G	ENSP00000439208.1:p.His243Arg
NM_001267059.1:c.767A>G	NP_001253988.1:p.His256Arg
NM_001267060.1:c.728A>G	NP_001253989.1:p.His243Arg
NM_001267061.1:c.743A>G	NP_001253990.1:p.His248Arg
NM_014748.3:c.803A>G	NP_055563.1:p.His268Arg
NR_049782.1:n.1176A>G
NR_049783.1:n.1149A>G
NR_049784.1:n.1125A>G
NR_049785.1:n.1058A>G
NR_049786.1:n.1007A>G
NR_049787.1:n.858A>G
NR_049788.1:n.788A>G
XM_011533203.1:c.161A>G	XP_011531505.1:p.His54Arg
XM_011533203.2:c.161A>G	XP_011531505.1:p.His54Arg
XM_017005405.2:c.161A>G	XP_016860894.1:p.His54Arg
NM_014748.4:c.803A>G MANE Select	NP_055563.1:p.His268Arg
NM_001267059.2:c.767A>G	NP_001253988.1:p.His256Arg
NM_001267061.2:c.743A>G	NP_001253990.1:p.His248Arg
NR_049782.2:n.1056A>G
NR_049783.2:n.1029A>G
NR_049784.2:n.1005A>G
NR_049785.2:n.938A>G
NR_049786.2:n.887A>G
NR_049787.2:n.738A>G
NR_049788.2:n.668A>G
NM_001267060.2:c.728A>G	NP_001253989.1:p.His243Arg