Canonical Allele Identifier: CA346209672

Gene: SNX17

Linked Data

• gnomAD v4: 2-27375073-A-G
• MyVariant Identifiers: chr2:g.27597940A>G (hg19) ; chr2:g.27375073A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375073A>G , CM000664.2:g.27375073A>G	GRCh38
NC_000002.11:g.27597940A>G , CM000664.1:g.27597940A>G	GRCh37
NC_000002.10:g.27451444A>G	NCBI36
NG_009305.1:g.385T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.694A>G MANE Select	ENSP00000233575.2:p.Ile232Val
ENST00000233575.6:c.694A>G	ENSP00000233575.2:p.Ile232Val
ENST00000427123.5:c.*504A>G	ENSP00000405399.1:n.*504A>G
ENST00000440760.5:c.*539A>G	ENSP00000399727.1:n.*539A>G
ENST00000453453.1:c.*221A>G	ENSP00000401922.1:n.*221A>G
ENST00000493711.1:n.411A>G
ENST00000494893.5:n.870A>G
ENST00000537606.5:c.619A>G	ENSP00000439208.1:p.Ile207Val
NM_001267059.1:c.658A>G	NP_001253988.1:p.Ile220Val
NM_001267060.1:c.619A>G	NP_001253989.1:p.Ile207Val
NM_001267061.1:c.634A>G	NP_001253990.1:p.Ile212Val
NM_014748.3:c.694A>G	NP_055563.1:p.Ile232Val
NR_049782.1:n.1067A>G
NR_049783.1:n.1040A>G
NR_049784.1:n.1016A>G
NR_049785.1:n.949A>G
NR_049786.1:n.898A>G
NR_049787.1:n.749A>G
NR_049788.1:n.679A>G
XM_011533203.1:c.52A>G	XP_011531505.1:p.Ile18Val
XM_011533203.2:c.52A>G	XP_011531505.1:p.Ile18Val
XM_017005405.2:c.52A>G	XP_016860894.1:p.Ile18Val
NM_014748.4:c.694A>G MANE Select	NP_055563.1:p.Ile232Val
NM_001267059.2:c.658A>G	NP_001253988.1:p.Ile220Val
NM_001267061.2:c.634A>G	NP_001253990.1:p.Ile212Val
NR_049782.2:n.947A>G
NR_049783.2:n.920A>G
NR_049784.2:n.896A>G
NR_049785.2:n.829A>G
NR_049786.2:n.778A>G
NR_049787.2:n.629A>G
NR_049788.2:n.559A>G
NM_001267060.2:c.619A>G	NP_001253989.1:p.Ile207Val