Canonical Allele Identifier: CA425606840
Gene: SNX17 HGNC NCBI

Linked Data

dbSNP Id: rs1683108956
COSMIC: COSM81750
MyVariant Identifiers: chr2:g.27598394C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27375527C>T , CM000664.2:g.27375527C>T GRCh38
NC_000002.11:g.27598394C>T , CM000664.1:g.27598394C>T GRCh37
NC_000002.10:g.27451898C>T NCBI36
NG_028219.1:g.10218G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233575.7:c.796C>T MANE Select ENSP00000233575.2:p.Leu266=
ENST00000233575.6:c.796C>T ENSP00000233575.2:p.Leu266=
ENST00000427123.5:c.*606C>T ENSP00000405399.1:n.*606C>T
ENST00000440760.5:c.*641C>T ENSP00000399727.1:n.*641C>T
ENST00000453453.1:c.*323C>T ENSP00000401922.1:n.*323C>T
ENST00000493711.1:n.513C>T
ENST00000537606.5:c.721C>T ENSP00000439208.1:p.Leu241=
NM_001267059.1:c.760C>T NP_001253988.1:p.Leu254=
NM_001267060.1:c.721C>T NP_001253989.1:p.Leu241=
NM_001267061.1:c.736C>T NP_001253990.1:p.Leu246=
NM_014748.3:c.796C>T NP_055563.1:p.Leu266=
NR_049782.1:n.1169C>T
NR_049783.1:n.1142C>T
NR_049784.1:n.1118C>T
NR_049785.1:n.1051C>T
NR_049786.1:n.1000C>T
NR_049787.1:n.851C>T
NR_049788.1:n.781C>T
XM_011533203.1:c.154C>T XP_011531505.1:p.Leu52=
XM_011533203.2:c.154C>T XP_011531505.1:p.Leu52=
XM_017005405.2:c.154C>T XP_016860894.1:p.Leu52=
NM_014748.4:c.796C>T MANE Select NP_055563.1:p.Leu266=
NM_001267059.2:c.760C>T NP_001253988.1:p.Leu254=
NM_001267061.2:c.736C>T NP_001253990.1:p.Leu246=
NR_049782.2:n.1049C>T
NR_049783.2:n.1022C>T
NR_049784.2:n.998C>T
NR_049785.2:n.931C>T
NR_049786.2:n.880C>T
NR_049787.2:n.731C>T
NR_049788.2:n.661C>T
NM_001267060.2:c.721C>T NP_001253989.1:p.Leu241=