Canonical Allele Identifier: CA44524718

Gene: SNX17

Linked Data

• dbSNP Id: rs777601214
• gnomAD v3: 2-27375530-C-T
• gnomAD v4: 2-27375530-C-T
• MyVariant Identifiers: chr2:g.27598397C>T (hg19) ; chr2:g.27375530C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375530C>T , CM000664.2:g.27375530C>T	GRCh38
NC_000002.11:g.27598397C>T , CM000664.1:g.27598397C>T	GRCh37
NC_000002.10:g.27451901C>T	NCBI36
NG_028219.1:g.10215G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.799C>T MANE Select	ENSP00000233575.2:p.Arg267Trp
ENST00000233575.6:c.799C>T	ENSP00000233575.2:p.Arg267Trp
ENST00000427123.5:c.*609C>T	ENSP00000405399.1:n.*609C>T
ENST00000440760.5:c.*644C>T	ENSP00000399727.1:n.*644C>T
ENST00000453453.1:c.*326C>T	ENSP00000401922.1:n.*326C>T
ENST00000493711.1:n.516C>T
ENST00000537606.5:c.724C>T	ENSP00000439208.1:p.Arg242Trp
NM_001267059.1:c.763C>T	NP_001253988.1:p.Arg255Trp
NM_001267060.1:c.724C>T	NP_001253989.1:p.Arg242Trp
NM_001267061.1:c.739C>T	NP_001253990.1:p.Arg247Trp
NM_014748.3:c.799C>T	NP_055563.1:p.Arg267Trp
NR_049782.1:n.1172C>T
NR_049783.1:n.1145C>T
NR_049784.1:n.1121C>T
NR_049785.1:n.1054C>T
NR_049786.1:n.1003C>T
NR_049787.1:n.854C>T
NR_049788.1:n.784C>T
XM_011533203.1:c.157C>T	XP_011531505.1:p.Arg53Trp
XM_011533203.2:c.157C>T	XP_011531505.1:p.Arg53Trp
XM_017005405.2:c.157C>T	XP_016860894.1:p.Arg53Trp
NM_014748.4:c.799C>T MANE Select	NP_055563.1:p.Arg267Trp
NM_001267059.2:c.763C>T	NP_001253988.1:p.Arg255Trp
NM_001267061.2:c.739C>T	NP_001253990.1:p.Arg247Trp
NR_049782.2:n.1052C>T
NR_049783.2:n.1025C>T
NR_049784.2:n.1001C>T
NR_049785.2:n.934C>T
NR_049786.2:n.883C>T
NR_049787.2:n.734C>T
NR_049788.2:n.664C>T
NM_001267060.2:c.724C>T	NP_001253989.1:p.Arg242Trp