Canonical Allele Identifier: CA346209771

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597986T>A (hg19) ; chr2:g.27375119T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375119T>A , CM000664.2:g.27375119T>A	GRCh38
NC_000002.11:g.27597986T>A , CM000664.1:g.27597986T>A	GRCh37
NC_000002.10:g.27451490T>A	NCBI36
NG_009305.1:g.339A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.740T>A MANE Select	ENSP00000233575.2:p.Leu247His
ENST00000233575.6:c.740T>A	ENSP00000233575.2:p.Leu247His
ENST00000427123.5:c.*550T>A	ENSP00000405399.1:n.*550T>A
ENST00000440760.5:c.*585T>A	ENSP00000399727.1:n.*585T>A
ENST00000453453.1:c.*267T>A	ENSP00000401922.1:n.*267T>A
ENST00000493711.1:n.457T>A
ENST00000494893.5:n.916T>A
ENST00000537606.5:c.665T>A	ENSP00000439208.1:p.Leu222His
NM_001267059.1:c.704T>A	NP_001253988.1:p.Leu235His
NM_001267060.1:c.665T>A	NP_001253989.1:p.Leu222His
NM_001267061.1:c.680T>A	NP_001253990.1:p.Leu227His
NM_014748.3:c.740T>A	NP_055563.1:p.Leu247His
NR_049782.1:n.1113T>A
NR_049783.1:n.1086T>A
NR_049784.1:n.1062T>A
NR_049785.1:n.995T>A
NR_049786.1:n.944T>A
NR_049787.1:n.795T>A
NR_049788.1:n.725T>A
XM_011533203.1:c.98T>A	XP_011531505.1:p.Leu33His
XM_011533203.2:c.98T>A	XP_011531505.1:p.Leu33His
XM_017005405.2:c.98T>A	XP_016860894.1:p.Leu33His
NM_014748.4:c.740T>A MANE Select	NP_055563.1:p.Leu247His
NM_001267059.2:c.704T>A	NP_001253988.1:p.Leu235His
NM_001267061.2:c.680T>A	NP_001253990.1:p.Leu227His
NR_049782.2:n.993T>A
NR_049783.2:n.966T>A
NR_049784.2:n.942T>A
NR_049785.2:n.875T>A
NR_049786.2:n.824T>A
NR_049787.2:n.675T>A
NR_049788.2:n.605T>A
NM_001267060.2:c.665T>A	NP_001253989.1:p.Leu222His