Canonical Allele Identifier: CA425415858
Gene: SNX17 HGNC NCBI

Linked Data

dbSNP Id: rs1683040777
gnomAD v4: 2-27375153-G-A
MyVariant Identifiers: chr2:g.27598020G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27375153G>A , CM000664.2:g.27375153G>A GRCh38
NC_000002.11:g.27598020G>A , CM000664.1:g.27598020G>A GRCh37
NC_000002.10:g.27451524G>A NCBI36
NG_009305.1:g.305C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233575.7:c.774G>A MANE Select ENSP00000233575.2:p.Glu258=
ENST00000233575.6:c.774G>A ENSP00000233575.2:p.Glu258=
ENST00000427123.5:c.*584G>A ENSP00000405399.1:n.*584G>A
ENST00000440760.5:c.*619G>A ENSP00000399727.1:n.*619G>A
ENST00000453453.1:c.*301G>A ENSP00000401922.1:n.*301G>A
ENST00000493711.1:n.491G>A
ENST00000494893.5:n.950G>A
ENST00000537606.5:c.699G>A ENSP00000439208.1:p.Glu233=
NM_001267059.1:c.738G>A NP_001253988.1:p.Glu246=
NM_001267060.1:c.699G>A NP_001253989.1:p.Glu233=
NM_001267061.1:c.714G>A NP_001253990.1:p.Glu238=
NM_014748.3:c.774G>A NP_055563.1:p.Glu258=
NR_049782.1:n.1147G>A
NR_049783.1:n.1120G>A
NR_049784.1:n.1096G>A
NR_049785.1:n.1029G>A
NR_049786.1:n.978G>A
NR_049787.1:n.829G>A
NR_049788.1:n.759G>A
XM_011533203.1:c.132G>A XP_011531505.1:p.Glu44=
XM_011533203.2:c.132G>A XP_011531505.1:p.Glu44=
XM_017005405.2:c.132G>A XP_016860894.1:p.Glu44=
NM_014748.4:c.774G>A MANE Select NP_055563.1:p.Glu258=
NM_001267059.2:c.738G>A NP_001253988.1:p.Glu246=
NM_001267061.2:c.714G>A NP_001253990.1:p.Glu238=
NR_049782.2:n.1027G>A
NR_049783.2:n.1000G>A
NR_049784.2:n.976G>A
NR_049785.2:n.909G>A
NR_049786.2:n.858G>A
NR_049787.2:n.709G>A
NR_049788.2:n.639G>A
NM_001267060.2:c.699G>A NP_001253989.1:p.Glu233=