Canonical Allele Identifier: CA1577398

Gene: SNX17

Linked Data

• dbSNP Id: rs777818780
• ExAC: 2:27597966 C / T
• gnomAD v2: 2-27597966-C-T
• gnomAD v4: 2-27375099-C-T
• MyVariant Identifiers: chr2:g.27597966C>T (hg19) ; chr2:g.27375099C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375099C>T , CM000664.2:g.27375099C>T	GRCh38
NC_000002.11:g.27597966C>T , CM000664.1:g.27597966C>T	GRCh37
NC_000002.10:g.27451470C>T	NCBI36
NG_009305.1:g.359G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.720C>T MANE Select	ENSP00000233575.2:p.Thr240=
ENST00000233575.6:c.720C>T	ENSP00000233575.2:p.Thr240=
ENST00000427123.5:c.*530C>T	ENSP00000405399.1:n.*530C>T
ENST00000440760.5:c.*565C>T	ENSP00000399727.1:n.*565C>T
ENST00000453453.1:c.*247C>T	ENSP00000401922.1:n.*247C>T
ENST00000493711.1:n.437C>T
ENST00000494893.5:n.896C>T
ENST00000537606.5:c.645C>T	ENSP00000439208.1:p.Thr215=
NM_001267059.1:c.684C>T	NP_001253988.1:p.Thr228=
NM_001267060.1:c.645C>T	NP_001253989.1:p.Thr215=
NM_001267061.1:c.660C>T	NP_001253990.1:p.Thr220=
NM_014748.3:c.720C>T	NP_055563.1:p.Thr240=
NR_049782.1:n.1093C>T
NR_049783.1:n.1066C>T
NR_049784.1:n.1042C>T
NR_049785.1:n.975C>T
NR_049786.1:n.924C>T
NR_049787.1:n.775C>T
NR_049788.1:n.705C>T
XM_011533203.1:c.78C>T	XP_011531505.1:p.Thr26=
XM_011533203.2:c.78C>T	XP_011531505.1:p.Thr26=
XM_017005405.2:c.78C>T	XP_016860894.1:p.Thr26=
NM_014748.4:c.720C>T MANE Select	NP_055563.1:p.Thr240=
NM_001267059.2:c.684C>T	NP_001253988.1:p.Thr228=
NM_001267061.2:c.660C>T	NP_001253990.1:p.Thr220=
NR_049782.2:n.973C>T
NR_049783.2:n.946C>T
NR_049784.2:n.922C>T
NR_049785.2:n.855C>T
NR_049786.2:n.804C>T
NR_049787.2:n.655C>T
NR_049788.2:n.585C>T
NM_001267060.2:c.645C>T	NP_001253989.1:p.Thr215=