Canonical Allele Identifier: CA425606885
Gene: SNX17 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.27598414G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27375547G>A , CM000664.2:g.27375547G>A GRCh38
NC_000002.11:g.27598414G>A , CM000664.1:g.27598414G>A GRCh37
NC_000002.10:g.27451918G>A NCBI36
NG_028219.1:g.10198C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233575.7:c.816G>A MANE Select ENSP00000233575.2:p.Leu272=
ENST00000233575.6:c.816G>A ENSP00000233575.2:p.Leu272=
ENST00000427123.5:c.*626G>A ENSP00000405399.1:n.*626G>A
ENST00000440760.5:c.*661G>A ENSP00000399727.1:n.*661G>A
ENST00000453453.1:c.*343G>A ENSP00000401922.1:n.*343G>A
ENST00000493711.1:n.533G>A
ENST00000537606.5:c.741G>A ENSP00000439208.1:p.Leu247=
NM_001267059.1:c.780G>A NP_001253988.1:p.Leu260=
NM_001267060.1:c.741G>A NP_001253989.1:p.Leu247=
NM_001267061.1:c.756G>A NP_001253990.1:p.Leu252=
NM_014748.3:c.816G>A NP_055563.1:p.Leu272=
NR_049782.1:n.1189G>A
NR_049783.1:n.1162G>A
NR_049784.1:n.1138G>A
NR_049785.1:n.1071G>A
NR_049786.1:n.1020G>A
NR_049787.1:n.871G>A
NR_049788.1:n.801G>A
XM_011533203.1:c.174G>A XP_011531505.1:p.Leu58=
XM_011533203.2:c.174G>A XP_011531505.1:p.Leu58=
XM_017005405.2:c.174G>A XP_016860894.1:p.Leu58=
NM_014748.4:c.816G>A MANE Select NP_055563.1:p.Leu272=
NM_001267059.2:c.780G>A NP_001253988.1:p.Leu260=
NM_001267061.2:c.756G>A NP_001253990.1:p.Leu252=
NR_049782.2:n.1069G>A
NR_049783.2:n.1042G>A
NR_049784.2:n.1018G>A
NR_049785.2:n.951G>A
NR_049786.2:n.900G>A
NR_049787.2:n.751G>A
NR_049788.2:n.681G>A
NM_001267060.2:c.741G>A NP_001253989.1:p.Leu247=