Canonical Allele Identifier: CA346209768

Gene: SNX17

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.739C>A MANE Select	ENSP00000233575.2:p.Leu247Ile
ENST00000233575.6:c.739C>A	ENSP00000233575.2:p.Leu247Ile
ENST00000427123.5:c.*549C>A	ENSP00000405399.1:n.*549C>A
ENST00000440760.5:c.*584C>A	ENSP00000399727.1:n.*584C>A
ENST00000453453.1:c.*266C>A	ENSP00000401922.1:n.*266C>A
ENST00000493711.1:n.456C>A
ENST00000494893.5:n.915C>A
ENST00000537606.5:c.664C>A	ENSP00000439208.1:p.Leu222Ile
NM_001267059.1:c.703C>A	NP_001253988.1:p.Leu235Ile
NM_001267060.1:c.664C>A	NP_001253989.1:p.Leu222Ile
NM_001267061.1:c.679C>A	NP_001253990.1:p.Leu227Ile
NM_014748.3:c.739C>A	NP_055563.1:p.Leu247Ile
NR_049782.1:n.1112C>A
NR_049783.1:n.1085C>A
NR_049784.1:n.1061C>A
NR_049785.1:n.994C>A
NR_049786.1:n.943C>A
NR_049787.1:n.794C>A
NR_049788.1:n.724C>A
XM_011533203.1:c.97C>A	XP_011531505.1:p.Leu33Ile
XM_011533203.2:c.97C>A	XP_011531505.1:p.Leu33Ile
XM_017005405.2:c.97C>A	XP_016860894.1:p.Leu33Ile
NM_014748.4:c.739C>A MANE Select	NP_055563.1:p.Leu247Ile
NM_001267059.2:c.703C>A	NP_001253988.1:p.Leu235Ile
NM_001267061.2:c.679C>A	NP_001253990.1:p.Leu227Ile
NR_049782.2:n.992C>A
NR_049783.2:n.965C>A
NR_049784.2:n.941C>A
NR_049785.2:n.874C>A
NR_049786.2:n.823C>A
NR_049787.2:n.674C>A
NR_049788.2:n.604C>A
NM_001267060.2:c.664C>A	NP_001253989.1:p.Leu222Ile