Canonical Allele Identifier: CA346209788

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597994C>G (hg19) ; chr2:g.27375127C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375127C>G , CM000664.2:g.27375127C>G	GRCh38
NC_000002.11:g.27597994C>G , CM000664.1:g.27597994C>G	GRCh37
NC_000002.10:g.27451498C>G	NCBI36
NG_009305.1:g.331G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.748C>G MANE Select	ENSP00000233575.2:p.Leu250Val
ENST00000233575.6:c.748C>G	ENSP00000233575.2:p.Leu250Val
ENST00000427123.5:c.*558C>G	ENSP00000405399.1:n.*558C>G
ENST00000440760.5:c.*593C>G	ENSP00000399727.1:n.*593C>G
ENST00000453453.1:c.*275C>G	ENSP00000401922.1:n.*275C>G
ENST00000493711.1:n.465C>G
ENST00000494893.5:n.924C>G
ENST00000537606.5:c.673C>G	ENSP00000439208.1:p.Leu225Val
NM_001267059.1:c.712C>G	NP_001253988.1:p.Leu238Val
NM_001267060.1:c.673C>G	NP_001253989.1:p.Leu225Val
NM_001267061.1:c.688C>G	NP_001253990.1:p.Leu230Val
NM_014748.3:c.748C>G	NP_055563.1:p.Leu250Val
NR_049782.1:n.1121C>G
NR_049783.1:n.1094C>G
NR_049784.1:n.1070C>G
NR_049785.1:n.1003C>G
NR_049786.1:n.952C>G
NR_049787.1:n.803C>G
NR_049788.1:n.733C>G
XM_011533203.1:c.106C>G	XP_011531505.1:p.Leu36Val
XM_011533203.2:c.106C>G	XP_011531505.1:p.Leu36Val
XM_017005405.2:c.106C>G	XP_016860894.1:p.Leu36Val
NM_014748.4:c.748C>G MANE Select	NP_055563.1:p.Leu250Val
NM_001267059.2:c.712C>G	NP_001253988.1:p.Leu238Val
NM_001267061.2:c.688C>G	NP_001253990.1:p.Leu230Val
NR_049782.2:n.1001C>G
NR_049783.2:n.974C>G
NR_049784.2:n.950C>G
NR_049785.2:n.883C>G
NR_049786.2:n.832C>G
NR_049787.2:n.683C>G
NR_049788.2:n.613C>G
NM_001267060.2:c.673C>G	NP_001253989.1:p.Leu225Val