Canonical Allele Identifier: CA346209830

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598013A>G (hg19) ; chr2:g.27375146A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375146A>G , CM000664.2:g.27375146A>G	GRCh38
NC_000002.11:g.27598013A>G , CM000664.1:g.27598013A>G	GRCh37
NC_000002.10:g.27451517A>G	NCBI36
NG_009305.1:g.312T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.767A>G MANE Select	ENSP00000233575.2:p.Lys256Arg
ENST00000233575.6:c.767A>G	ENSP00000233575.2:p.Lys256Arg
ENST00000427123.5:c.*577A>G	ENSP00000405399.1:n.*577A>G
ENST00000440760.5:c.*612A>G	ENSP00000399727.1:n.*612A>G
ENST00000453453.1:c.*294A>G	ENSP00000401922.1:n.*294A>G
ENST00000493711.1:n.484A>G
ENST00000494893.5:n.943A>G
ENST00000537606.5:c.692A>G	ENSP00000439208.1:p.Lys231Arg
NM_001267059.1:c.731A>G	NP_001253988.1:p.Lys244Arg
NM_001267060.1:c.692A>G	NP_001253989.1:p.Lys231Arg
NM_001267061.1:c.707A>G	NP_001253990.1:p.Lys236Arg
NM_014748.3:c.767A>G	NP_055563.1:p.Lys256Arg
NR_049782.1:n.1140A>G
NR_049783.1:n.1113A>G
NR_049784.1:n.1089A>G
NR_049785.1:n.1022A>G
NR_049786.1:n.971A>G
NR_049787.1:n.822A>G
NR_049788.1:n.752A>G
XM_011533203.1:c.125A>G	XP_011531505.1:p.Lys42Arg
XM_011533203.2:c.125A>G	XP_011531505.1:p.Lys42Arg
XM_017005405.2:c.125A>G	XP_016860894.1:p.Lys42Arg
NM_014748.4:c.767A>G MANE Select	NP_055563.1:p.Lys256Arg
NM_001267059.2:c.731A>G	NP_001253988.1:p.Lys244Arg
NM_001267061.2:c.707A>G	NP_001253990.1:p.Lys236Arg
NR_049782.2:n.1020A>G
NR_049783.2:n.993A>G
NR_049784.2:n.969A>G
NR_049785.2:n.902A>G
NR_049786.2:n.851A>G
NR_049787.2:n.702A>G
NR_049788.2:n.632A>G
NM_001267060.2:c.692A>G	NP_001253989.1:p.Lys231Arg