Canonical Allele Identifier: CA346209806

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598002G>C (hg19) ; chr2:g.27375135G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375135G>C , CM000664.2:g.27375135G>C	GRCh38
NC_000002.11:g.27598002G>C , CM000664.1:g.27598002G>C	GRCh37
NC_000002.10:g.27451506G>C	NCBI36
NG_009305.1:g.323C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.756G>C MANE Select	ENSP00000233575.2:p.Glu252Asp
ENST00000233575.6:c.756G>C	ENSP00000233575.2:p.Glu252Asp
ENST00000427123.5:c.*566G>C	ENSP00000405399.1:n.*566G>C
ENST00000440760.5:c.*601G>C	ENSP00000399727.1:n.*601G>C
ENST00000453453.1:c.*283G>C	ENSP00000401922.1:n.*283G>C
ENST00000493711.1:n.473G>C
ENST00000494893.5:n.932G>C
ENST00000537606.5:c.681G>C	ENSP00000439208.1:p.Glu227Asp
NM_001267059.1:c.720G>C	NP_001253988.1:p.Glu240Asp
NM_001267060.1:c.681G>C	NP_001253989.1:p.Glu227Asp
NM_001267061.1:c.696G>C	NP_001253990.1:p.Glu232Asp
NM_014748.3:c.756G>C	NP_055563.1:p.Glu252Asp
NR_049782.1:n.1129G>C
NR_049783.1:n.1102G>C
NR_049784.1:n.1078G>C
NR_049785.1:n.1011G>C
NR_049786.1:n.960G>C
NR_049787.1:n.811G>C
NR_049788.1:n.741G>C
XM_011533203.1:c.114G>C	XP_011531505.1:p.Glu38Asp
XM_011533203.2:c.114G>C	XP_011531505.1:p.Glu38Asp
XM_017005405.2:c.114G>C	XP_016860894.1:p.Glu38Asp
NM_014748.4:c.756G>C MANE Select	NP_055563.1:p.Glu252Asp
NM_001267059.2:c.720G>C	NP_001253988.1:p.Glu240Asp
NM_001267061.2:c.696G>C	NP_001253990.1:p.Glu232Asp
NR_049782.2:n.1009G>C
NR_049783.2:n.982G>C
NR_049784.2:n.958G>C
NR_049785.2:n.891G>C
NR_049786.2:n.840G>C
NR_049787.2:n.691G>C
NR_049788.2:n.621G>C
NM_001267060.2:c.681G>C	NP_001253989.1:p.Glu227Asp