Canonical Allele Identifier: CA425606835

Gene: SNX17

Linked Data

• dbSNP Id: rs1173697626
• gnomAD v2: 2-27598393-G-T
• MyVariant Identifiers: chr2:g.27598393G>T (hg19) ; chr2:g.27375526G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375526G>T , CM000664.2:g.27375526G>T	GRCh38
NC_000002.11:g.27598393G>T , CM000664.1:g.27598393G>T	GRCh37
NC_000002.10:g.27451897G>T	NCBI36
NG_028219.1:g.10219C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.795G>T MANE Select	ENSP00000233575.2:p.Thr265=
ENST00000233575.6:c.795G>T	ENSP00000233575.2:p.Thr265=
ENST00000427123.5:c.*605G>T	ENSP00000405399.1:n.*605G>T
ENST00000440760.5:c.*640G>T	ENSP00000399727.1:n.*640G>T
ENST00000453453.1:c.*322G>T	ENSP00000401922.1:n.*322G>T
ENST00000493711.1:n.512G>T
ENST00000537606.5:c.720G>T	ENSP00000439208.1:p.Thr240=
NM_001267059.1:c.759G>T	NP_001253988.1:p.Thr253=
NM_001267060.1:c.720G>T	NP_001253989.1:p.Thr240=
NM_001267061.1:c.735G>T	NP_001253990.1:p.Thr245=
NM_014748.3:c.795G>T	NP_055563.1:p.Thr265=
NR_049782.1:n.1168G>T
NR_049783.1:n.1141G>T
NR_049784.1:n.1117G>T
NR_049785.1:n.1050G>T
NR_049786.1:n.999G>T
NR_049787.1:n.850G>T
NR_049788.1:n.780G>T
XM_011533203.1:c.153G>T	XP_011531505.1:p.Thr51=
XM_011533203.2:c.153G>T	XP_011531505.1:p.Thr51=
XM_017005405.2:c.153G>T	XP_016860894.1:p.Thr51=
NM_014748.4:c.795G>T MANE Select	NP_055563.1:p.Thr265=
NM_001267059.2:c.759G>T	NP_001253988.1:p.Thr253=
NM_001267061.2:c.735G>T	NP_001253990.1:p.Thr245=
NR_049782.2:n.1048G>T
NR_049783.2:n.1021G>T
NR_049784.2:n.997G>T
NR_049785.2:n.930G>T
NR_049786.2:n.879G>T
NR_049787.2:n.730G>T
NR_049788.2:n.660G>T
NM_001267060.2:c.720G>T	NP_001253989.1:p.Thr240=