Canonical Allele Identifier: CA346209769

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597985C>G (hg19) ; chr2:g.27375118C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375118C>G , CM000664.2:g.27375118C>G	GRCh38
NC_000002.11:g.27597985C>G , CM000664.1:g.27597985C>G	GRCh37
NC_000002.10:g.27451489C>G	NCBI36
NG_009305.1:g.340G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.739C>G MANE Select	ENSP00000233575.2:p.Leu247Val
ENST00000233575.6:c.739C>G	ENSP00000233575.2:p.Leu247Val
ENST00000427123.5:c.*549C>G	ENSP00000405399.1:n.*549C>G
ENST00000440760.5:c.*584C>G	ENSP00000399727.1:n.*584C>G
ENST00000453453.1:c.*266C>G	ENSP00000401922.1:n.*266C>G
ENST00000493711.1:n.456C>G
ENST00000494893.5:n.915C>G
ENST00000537606.5:c.664C>G	ENSP00000439208.1:p.Leu222Val
NM_001267059.1:c.703C>G	NP_001253988.1:p.Leu235Val
NM_001267060.1:c.664C>G	NP_001253989.1:p.Leu222Val
NM_001267061.1:c.679C>G	NP_001253990.1:p.Leu227Val
NM_014748.3:c.739C>G	NP_055563.1:p.Leu247Val
NR_049782.1:n.1112C>G
NR_049783.1:n.1085C>G
NR_049784.1:n.1061C>G
NR_049785.1:n.994C>G
NR_049786.1:n.943C>G
NR_049787.1:n.794C>G
NR_049788.1:n.724C>G
XM_011533203.1:c.97C>G	XP_011531505.1:p.Leu33Val
XM_011533203.2:c.97C>G	XP_011531505.1:p.Leu33Val
XM_017005405.2:c.97C>G	XP_016860894.1:p.Leu33Val
NM_014748.4:c.739C>G MANE Select	NP_055563.1:p.Leu247Val
NM_001267059.2:c.703C>G	NP_001253988.1:p.Leu235Val
NM_001267061.2:c.679C>G	NP_001253990.1:p.Leu227Val
NR_049782.2:n.992C>G
NR_049783.2:n.965C>G
NR_049784.2:n.941C>G
NR_049785.2:n.874C>G
NR_049786.2:n.823C>G
NR_049787.2:n.674C>G
NR_049788.2:n.604C>G
NM_001267060.2:c.664C>G	NP_001253989.1:p.Leu222Val