Canonical Allele Identifier: CA425606823
Gene: SNX17 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.27598387C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27375520C>G , CM000664.2:g.27375520C>G GRCh38
NC_000002.11:g.27598387C>G , CM000664.1:g.27598387C>G GRCh37
NC_000002.10:g.27451891C>G NCBI36
NG_028219.1:g.10225G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233575.7:c.789C>G MANE Select ENSP00000233575.2:p.Ala263=
ENST00000233575.6:c.789C>G ENSP00000233575.2:p.Ala263=
ENST00000427123.5:c.*599C>G ENSP00000405399.1:n.*599C>G
ENST00000440760.5:c.*634C>G ENSP00000399727.1:n.*634C>G
ENST00000453453.1:c.*316C>G ENSP00000401922.1:n.*316C>G
ENST00000493711.1:n.506C>G
ENST00000494893.5:n.965C>G
ENST00000537606.5:c.714C>G ENSP00000439208.1:p.Ala238=
NM_001267059.1:c.753C>G NP_001253988.1:p.Ala251=
NM_001267060.1:c.714C>G NP_001253989.1:p.Ala238=
NM_001267061.1:c.729C>G NP_001253990.1:p.Ala243=
NM_014748.3:c.789C>G NP_055563.1:p.Ala263=
NR_049782.1:n.1162C>G
NR_049783.1:n.1135C>G
NR_049784.1:n.1111C>G
NR_049785.1:n.1044C>G
NR_049786.1:n.993C>G
NR_049787.1:n.844C>G
NR_049788.1:n.774C>G
XM_011533203.1:c.147C>G XP_011531505.1:p.Ala49=
XM_011533203.2:c.147C>G XP_011531505.1:p.Ala49=
XM_017005405.2:c.147C>G XP_016860894.1:p.Ala49=
NM_014748.4:c.789C>G MANE Select NP_055563.1:p.Ala263=
NM_001267059.2:c.753C>G NP_001253988.1:p.Ala251=
NM_001267061.2:c.729C>G NP_001253990.1:p.Ala243=
NR_049782.2:n.1042C>G
NR_049783.2:n.1015C>G
NR_049784.2:n.991C>G
NR_049785.2:n.924C>G
NR_049786.2:n.873C>G
NR_049787.2:n.724C>G
NR_049788.2:n.654C>G
NM_001267060.2:c.714C>G NP_001253989.1:p.Ala238=