Canonical Allele Identifier: CA346209985

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598382C>G (hg19) ; chr2:g.27375515C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375515C>G , CM000664.2:g.27375515C>G	GRCh38
NC_000002.11:g.27598382C>G , CM000664.1:g.27598382C>G	GRCh37
NC_000002.10:g.27451886C>G	NCBI36
NG_028219.1:g.10230G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.784C>G MANE Select	ENSP00000233575.2:p.Leu262Val
ENST00000233575.6:c.784C>G	ENSP00000233575.2:p.Leu262Val
ENST00000427123.5:c.*594C>G	ENSP00000405399.1:n.*594C>G
ENST00000440760.5:c.*629C>G	ENSP00000399727.1:n.*629C>G
ENST00000453453.1:c.*311C>G	ENSP00000401922.1:n.*311C>G
ENST00000493711.1:n.501C>G
ENST00000494893.5:n.960C>G
ENST00000537606.5:c.709C>G	ENSP00000439208.1:p.Leu237Val
NM_001267059.1:c.748C>G	NP_001253988.1:p.Leu250Val
NM_001267060.1:c.709C>G	NP_001253989.1:p.Leu237Val
NM_001267061.1:c.724C>G	NP_001253990.1:p.Leu242Val
NM_014748.3:c.784C>G	NP_055563.1:p.Leu262Val
NR_049782.1:n.1157C>G
NR_049783.1:n.1130C>G
NR_049784.1:n.1106C>G
NR_049785.1:n.1039C>G
NR_049786.1:n.988C>G
NR_049787.1:n.839C>G
NR_049788.1:n.769C>G
XM_011533203.1:c.142C>G	XP_011531505.1:p.Leu48Val
XM_011533203.2:c.142C>G	XP_011531505.1:p.Leu48Val
XM_017005405.2:c.142C>G	XP_016860894.1:p.Leu48Val
NM_014748.4:c.784C>G MANE Select	NP_055563.1:p.Leu262Val
NM_001267059.2:c.748C>G	NP_001253988.1:p.Leu250Val
NM_001267061.2:c.724C>G	NP_001253990.1:p.Leu242Val
NR_049782.2:n.1037C>G
NR_049783.2:n.1010C>G
NR_049784.2:n.986C>G
NR_049785.2:n.919C>G
NR_049786.2:n.868C>G
NR_049787.2:n.719C>G
NR_049788.2:n.649C>G
NM_001267060.2:c.709C>G	NP_001253989.1:p.Leu237Val