Canonical Allele Identifier: CA346209800

Gene: SNX17

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.754G>A MANE Select	ENSP00000233575.2:p.Glu252Lys
ENST00000233575.6:c.754G>A	ENSP00000233575.2:p.Glu252Lys
ENST00000427123.5:c.*564G>A	ENSP00000405399.1:n.*564G>A
ENST00000440760.5:c.*599G>A	ENSP00000399727.1:n.*599G>A
ENST00000453453.1:c.*281G>A	ENSP00000401922.1:n.*281G>A
ENST00000493711.1:n.471G>A
ENST00000494893.5:n.930G>A
ENST00000537606.5:c.679G>A	ENSP00000439208.1:p.Glu227Lys
NM_001267059.1:c.718G>A	NP_001253988.1:p.Glu240Lys
NM_001267060.1:c.679G>A	NP_001253989.1:p.Glu227Lys
NM_001267061.1:c.694G>A	NP_001253990.1:p.Glu232Lys
NM_014748.3:c.754G>A	NP_055563.1:p.Glu252Lys
NR_049782.1:n.1127G>A
NR_049783.1:n.1100G>A
NR_049784.1:n.1076G>A
NR_049785.1:n.1009G>A
NR_049786.1:n.958G>A
NR_049787.1:n.809G>A
NR_049788.1:n.739G>A
XM_011533203.1:c.112G>A	XP_011531505.1:p.Glu38Lys
XM_011533203.2:c.112G>A	XP_011531505.1:p.Glu38Lys
XM_017005405.2:c.112G>A	XP_016860894.1:p.Glu38Lys
NM_014748.4:c.754G>A MANE Select	NP_055563.1:p.Glu252Lys
NM_001267059.2:c.718G>A	NP_001253988.1:p.Glu240Lys
NM_001267061.2:c.694G>A	NP_001253990.1:p.Glu232Lys
NR_049782.2:n.1007G>A
NR_049783.2:n.980G>A
NR_049784.2:n.956G>A
NR_049785.2:n.889G>A
NR_049786.2:n.838G>A
NR_049787.2:n.689G>A
NR_049788.2:n.619G>A
NM_001267060.2:c.679G>A	NP_001253989.1:p.Glu227Lys