Canonical Allele Identifier: CA346209977

Gene: SNX17

Linked Data

• dbSNP Id: rs1227821347
• MyVariant Identifiers: chr2:g.27598380G>T (hg19) ; chr2:g.27375513G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375513G>T , CM000664.2:g.27375513G>T	GRCh38
NC_000002.11:g.27598380G>T , CM000664.1:g.27598380G>T	GRCh37
NC_000002.10:g.27451884G>T	NCBI36
NG_028219.1:g.10232C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.782G>T MANE Select	ENSP00000233575.2:p.Arg261Ile
ENST00000233575.6:c.782G>T	ENSP00000233575.2:p.Arg261Ile
ENST00000427123.5:c.*592G>T	ENSP00000405399.1:n.*592G>T
ENST00000440760.5:c.*627G>T	ENSP00000399727.1:n.*627G>T
ENST00000453453.1:c.*309G>T	ENSP00000401922.1:n.*309G>T
ENST00000493711.1:n.499G>T
ENST00000494893.5:n.958G>T
ENST00000537606.5:c.707G>T	ENSP00000439208.1:p.Arg236Ile
NM_001267059.1:c.746G>T	NP_001253988.1:p.Arg249Ile
NM_001267060.1:c.707G>T	NP_001253989.1:p.Arg236Ile
NM_001267061.1:c.722G>T	NP_001253990.1:p.Arg241Ile
NM_014748.3:c.782G>T	NP_055563.1:p.Arg261Ile
NR_049782.1:n.1155G>T
NR_049783.1:n.1128G>T
NR_049784.1:n.1104G>T
NR_049785.1:n.1037G>T
NR_049786.1:n.986G>T
NR_049787.1:n.837G>T
NR_049788.1:n.767G>T
XM_011533203.1:c.140G>T	XP_011531505.1:p.Arg47Ile
XM_011533203.2:c.140G>T	XP_011531505.1:p.Arg47Ile
XM_017005405.2:c.140G>T	XP_016860894.1:p.Arg47Ile
NM_014748.4:c.782G>T MANE Select	NP_055563.1:p.Arg261Ile
NM_001267059.2:c.746G>T	NP_001253988.1:p.Arg249Ile
NM_001267061.2:c.722G>T	NP_001253990.1:p.Arg241Ile
NR_049782.2:n.1035G>T
NR_049783.2:n.1008G>T
NR_049784.2:n.984G>T
NR_049785.2:n.917G>T
NR_049786.2:n.866G>T
NR_049787.2:n.717G>T
NR_049788.2:n.647G>T
NM_001267060.2:c.707G>T	NP_001253989.1:p.Arg236Ile