Canonical Allele Identifier: CA1577390

Gene: SNX17

Linked Data

• dbSNP Id: rs750869135
• ExAC: 2:27597935 C / T
• gnomAD v2: 2-27597935-C-T
• gnomAD v4: 2-27375068-C-T
• MyVariant Identifiers: chr2:g.27597935C>T (hg19) ; chr2:g.27375068C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375068C>T , CM000664.2:g.27375068C>T	GRCh38
NC_000002.11:g.27597935C>T , CM000664.1:g.27597935C>T	GRCh37
NC_000002.10:g.27451439C>T	NCBI36
NG_009305.1:g.390G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.689C>T MANE Select	ENSP00000233575.2:p.Ser230Leu
ENST00000233575.6:c.689C>T	ENSP00000233575.2:p.Ser230Leu
ENST00000427123.5:c.*499C>T	ENSP00000405399.1:n.*499C>T
ENST00000440760.5:c.*534C>T	ENSP00000399727.1:n.*534C>T
ENST00000453453.1:c.*216C>T	ENSP00000401922.1:n.*216C>T
ENST00000493711.1:n.406C>T
ENST00000494893.5:n.865C>T
ENST00000537606.5:c.614C>T	ENSP00000439208.1:p.Ser205Leu
NM_001267059.1:c.653C>T	NP_001253988.1:p.Ser218Leu
NM_001267060.1:c.614C>T	NP_001253989.1:p.Ser205Leu
NM_001267061.1:c.629C>T	NP_001253990.1:p.Ser210Leu
NM_014748.3:c.689C>T	NP_055563.1:p.Ser230Leu
NR_049782.1:n.1062C>T
NR_049783.1:n.1035C>T
NR_049784.1:n.1011C>T
NR_049785.1:n.944C>T
NR_049786.1:n.893C>T
NR_049787.1:n.744C>T
NR_049788.1:n.674C>T
XM_011533203.1:c.47C>T	XP_011531505.1:p.Ser16Leu
XM_011533203.2:c.47C>T	XP_011531505.1:p.Ser16Leu
XM_017005405.2:c.47C>T	XP_016860894.1:p.Ser16Leu
NM_014748.4:c.689C>T MANE Select	NP_055563.1:p.Ser230Leu
NM_001267059.2:c.653C>T	NP_001253988.1:p.Ser218Leu
NM_001267061.2:c.629C>T	NP_001253990.1:p.Ser210Leu
NR_049782.2:n.942C>T
NR_049783.2:n.915C>T
NR_049784.2:n.891C>T
NR_049785.2:n.824C>T
NR_049786.2:n.773C>T
NR_049787.2:n.624C>T
NR_049788.2:n.554C>T
NM_001267060.2:c.614C>T	NP_001253989.1:p.Ser205Leu