Canonical Allele Identifier: CA1577392

Gene: SNX17

Linked Data

• dbSNP Id: rs780277583
• ExAC: 2:27597946 C / T
• gnomAD v2: 2-27597946-C-T
• gnomAD v3: 2-27375079-C-T
• gnomAD v4: 2-27375079-C-T
• MyVariant Identifiers: chr2:g.27597946C>T (hg19) ; chr2:g.27375079C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375079C>T , CM000664.2:g.27375079C>T	GRCh38
NC_000002.11:g.27597946C>T , CM000664.1:g.27597946C>T	GRCh37
NC_000002.10:g.27451450C>T	NCBI36
NG_009305.1:g.379G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.700C>T MANE Select	ENSP00000233575.2:p.Arg234Cys
ENST00000233575.6:c.700C>T	ENSP00000233575.2:p.Arg234Cys
ENST00000427123.5:c.*510C>T	ENSP00000405399.1:n.*510C>T
ENST00000440760.5:c.*545C>T	ENSP00000399727.1:n.*545C>T
ENST00000453453.1:c.*227C>T	ENSP00000401922.1:n.*227C>T
ENST00000493711.1:n.417C>T
ENST00000494893.5:n.876C>T
ENST00000537606.5:c.625C>T	ENSP00000439208.1:p.Arg209Cys
NM_001267059.1:c.664C>T	NP_001253988.1:p.Arg222Cys
NM_001267060.1:c.625C>T	NP_001253989.1:p.Arg209Cys
NM_001267061.1:c.640C>T	NP_001253990.1:p.Arg214Cys
NM_014748.3:c.700C>T	NP_055563.1:p.Arg234Cys
NR_049782.1:n.1073C>T
NR_049783.1:n.1046C>T
NR_049784.1:n.1022C>T
NR_049785.1:n.955C>T
NR_049786.1:n.904C>T
NR_049787.1:n.755C>T
NR_049788.1:n.685C>T
XM_011533203.1:c.58C>T	XP_011531505.1:p.Arg20Cys
XM_011533203.2:c.58C>T	XP_011531505.1:p.Arg20Cys
XM_017005405.2:c.58C>T	XP_016860894.1:p.Arg20Cys
NM_014748.4:c.700C>T MANE Select	NP_055563.1:p.Arg234Cys
NM_001267059.2:c.664C>T	NP_001253988.1:p.Arg222Cys
NM_001267061.2:c.640C>T	NP_001253990.1:p.Arg214Cys
NR_049782.2:n.953C>T
NR_049783.2:n.926C>T
NR_049784.2:n.902C>T
NR_049785.2:n.835C>T
NR_049786.2:n.784C>T
NR_049787.2:n.635C>T
NR_049788.2:n.565C>T
NM_001267060.2:c.625C>T	NP_001253989.1:p.Arg209Cys