Canonical Allele Identifier: CA346209679

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597943G>C (hg19) ; chr2:g.27375076G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375076G>C , CM000664.2:g.27375076G>C	GRCh38
NC_000002.11:g.27597943G>C , CM000664.1:g.27597943G>C	GRCh37
NC_000002.10:g.27451447G>C	NCBI36
NG_009305.1:g.382C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.697G>C MANE Select	ENSP00000233575.2:p.Glu233Gln
ENST00000233575.6:c.697G>C	ENSP00000233575.2:p.Glu233Gln
ENST00000427123.5:c.*507G>C	ENSP00000405399.1:n.*507G>C
ENST00000440760.5:c.*542G>C	ENSP00000399727.1:n.*542G>C
ENST00000453453.1:c.*224G>C	ENSP00000401922.1:n.*224G>C
ENST00000493711.1:n.414G>C
ENST00000494893.5:n.873G>C
ENST00000537606.5:c.622G>C	ENSP00000439208.1:p.Glu208Gln
NM_001267059.1:c.661G>C	NP_001253988.1:p.Glu221Gln
NM_001267060.1:c.622G>C	NP_001253989.1:p.Glu208Gln
NM_001267061.1:c.637G>C	NP_001253990.1:p.Glu213Gln
NM_014748.3:c.697G>C	NP_055563.1:p.Glu233Gln
NR_049782.1:n.1070G>C
NR_049783.1:n.1043G>C
NR_049784.1:n.1019G>C
NR_049785.1:n.952G>C
NR_049786.1:n.901G>C
NR_049787.1:n.752G>C
NR_049788.1:n.682G>C
XM_011533203.1:c.55G>C	XP_011531505.1:p.Glu19Gln
XM_011533203.2:c.55G>C	XP_011531505.1:p.Glu19Gln
XM_017005405.2:c.55G>C	XP_016860894.1:p.Glu19Gln
NM_014748.4:c.697G>C MANE Select	NP_055563.1:p.Glu233Gln
NM_001267059.2:c.661G>C	NP_001253988.1:p.Glu221Gln
NM_001267061.2:c.637G>C	NP_001253990.1:p.Glu213Gln
NR_049782.2:n.950G>C
NR_049783.2:n.923G>C
NR_049784.2:n.899G>C
NR_049785.2:n.832G>C
NR_049786.2:n.781G>C
NR_049787.2:n.632G>C
NR_049788.2:n.562G>C
NM_001267060.2:c.622G>C	NP_001253989.1:p.Glu208Gln