Canonical Allele Identifier: CA425606800
Gene: SNX17 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.27598376C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27375509C>T , CM000664.2:g.27375509C>T GRCh38
NC_000002.11:g.27598376C>T , CM000664.1:g.27598376C>T GRCh37
NC_000002.10:g.27451880C>T NCBI36
NG_028219.1:g.10236G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233575.7:c.778C>T MANE Select ENSP00000233575.2:p.Leu260=
ENST00000233575.6:c.778C>T ENSP00000233575.2:p.Leu260=
ENST00000427123.5:c.*588C>T ENSP00000405399.1:n.*588C>T
ENST00000440760.5:c.*623C>T ENSP00000399727.1:n.*623C>T
ENST00000453453.1:c.*305C>T ENSP00000401922.1:n.*305C>T
ENST00000493711.1:n.495C>T
ENST00000494893.5:n.954C>T
ENST00000537606.5:c.703C>T ENSP00000439208.1:p.Leu235=
NM_001267059.1:c.742C>T NP_001253988.1:p.Leu248=
NM_001267060.1:c.703C>T NP_001253989.1:p.Leu235=
NM_001267061.1:c.718C>T NP_001253990.1:p.Leu240=
NM_014748.3:c.778C>T NP_055563.1:p.Leu260=
NR_049782.1:n.1151C>T
NR_049783.1:n.1124C>T
NR_049784.1:n.1100C>T
NR_049785.1:n.1033C>T
NR_049786.1:n.982C>T
NR_049787.1:n.833C>T
NR_049788.1:n.763C>T
XM_011533203.1:c.136C>T XP_011531505.1:p.Leu46=
XM_011533203.2:c.136C>T XP_011531505.1:p.Leu46=
XM_017005405.2:c.136C>T XP_016860894.1:p.Leu46=
NM_014748.4:c.778C>T MANE Select NP_055563.1:p.Leu260=
NM_001267059.2:c.742C>T NP_001253988.1:p.Leu248=
NM_001267061.2:c.718C>T NP_001253990.1:p.Leu240=
NR_049782.2:n.1031C>T
NR_049783.2:n.1004C>T
NR_049784.2:n.980C>T
NR_049785.2:n.913C>T
NR_049786.2:n.862C>T
NR_049787.2:n.713C>T
NR_049788.2:n.643C>T
NM_001267060.2:c.703C>T NP_001253989.1:p.Leu235=