Canonical Allele Identifier: CA346209801

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598000G>C (hg19) ; chr2:g.27375133G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375133G>C , CM000664.2:g.27375133G>C	GRCh38
NC_000002.11:g.27598000G>C , CM000664.1:g.27598000G>C	GRCh37
NC_000002.10:g.27451504G>C	NCBI36
NG_009305.1:g.325C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.754G>C MANE Select	ENSP00000233575.2:p.Glu252Gln
ENST00000233575.6:c.754G>C	ENSP00000233575.2:p.Glu252Gln
ENST00000427123.5:c.*564G>C	ENSP00000405399.1:n.*564G>C
ENST00000440760.5:c.*599G>C	ENSP00000399727.1:n.*599G>C
ENST00000453453.1:c.*281G>C	ENSP00000401922.1:n.*281G>C
ENST00000493711.1:n.471G>C
ENST00000494893.5:n.930G>C
ENST00000537606.5:c.679G>C	ENSP00000439208.1:p.Glu227Gln
NM_001267059.1:c.718G>C	NP_001253988.1:p.Glu240Gln
NM_001267060.1:c.679G>C	NP_001253989.1:p.Glu227Gln
NM_001267061.1:c.694G>C	NP_001253990.1:p.Glu232Gln
NM_014748.3:c.754G>C	NP_055563.1:p.Glu252Gln
NR_049782.1:n.1127G>C
NR_049783.1:n.1100G>C
NR_049784.1:n.1076G>C
NR_049785.1:n.1009G>C
NR_049786.1:n.958G>C
NR_049787.1:n.809G>C
NR_049788.1:n.739G>C
XM_011533203.1:c.112G>C	XP_011531505.1:p.Glu38Gln
XM_011533203.2:c.112G>C	XP_011531505.1:p.Glu38Gln
XM_017005405.2:c.112G>C	XP_016860894.1:p.Glu38Gln
NM_014748.4:c.754G>C MANE Select	NP_055563.1:p.Glu252Gln
NM_001267059.2:c.718G>C	NP_001253988.1:p.Glu240Gln
NM_001267061.2:c.694G>C	NP_001253990.1:p.Glu232Gln
NR_049782.2:n.1007G>C
NR_049783.2:n.980G>C
NR_049784.2:n.956G>C
NR_049785.2:n.889G>C
NR_049786.2:n.838G>C
NR_049787.2:n.689G>C
NR_049788.2:n.619G>C
NM_001267060.2:c.679G>C	NP_001253989.1:p.Glu227Gln