Canonical Allele Identifier: CA44524222

Gene: SNX17

Linked Data

• dbSNP Id: rs1039951265
• MyVariant Identifiers: chr2:g.27598016A>G (hg19) ; chr2:g.27375149A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375149A>G , CM000664.2:g.27375149A>G	GRCh38
NC_000002.11:g.27598016A>G , CM000664.1:g.27598016A>G	GRCh37
NC_000002.10:g.27451520A>G	NCBI36
NG_009305.1:g.309T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.770A>G MANE Select	ENSP00000233575.2:p.Lys257Arg
ENST00000233575.6:c.770A>G	ENSP00000233575.2:p.Lys257Arg
ENST00000427123.5:c.*580A>G	ENSP00000405399.1:n.*580A>G
ENST00000440760.5:c.*615A>G	ENSP00000399727.1:n.*615A>G
ENST00000453453.1:c.*297A>G	ENSP00000401922.1:n.*297A>G
ENST00000493711.1:n.487A>G
ENST00000494893.5:n.946A>G
ENST00000537606.5:c.695A>G	ENSP00000439208.1:p.Lys232Arg
NM_001267059.1:c.734A>G	NP_001253988.1:p.Lys245Arg
NM_001267060.1:c.695A>G	NP_001253989.1:p.Lys232Arg
NM_001267061.1:c.710A>G	NP_001253990.1:p.Lys237Arg
NM_014748.3:c.770A>G	NP_055563.1:p.Lys257Arg
NR_049782.1:n.1143A>G
NR_049783.1:n.1116A>G
NR_049784.1:n.1092A>G
NR_049785.1:n.1025A>G
NR_049786.1:n.974A>G
NR_049787.1:n.825A>G
NR_049788.1:n.755A>G
XM_011533203.1:c.128A>G	XP_011531505.1:p.Lys43Arg
XM_011533203.2:c.128A>G	XP_011531505.1:p.Lys43Arg
XM_017005405.2:c.128A>G	XP_016860894.1:p.Lys43Arg
NM_014748.4:c.770A>G MANE Select	NP_055563.1:p.Lys257Arg
NM_001267059.2:c.734A>G	NP_001253988.1:p.Lys245Arg
NM_001267061.2:c.710A>G	NP_001253990.1:p.Lys237Arg
NR_049782.2:n.1023A>G
NR_049783.2:n.996A>G
NR_049784.2:n.972A>G
NR_049785.2:n.905A>G
NR_049786.2:n.854A>G
NR_049787.2:n.705A>G
NR_049788.2:n.635A>G
NM_001267060.2:c.695A>G	NP_001253989.1:p.Lys232Arg