Canonical Allele Identifier: CA346209649

Gene: SNX17

Linked Data

• dbSNP Id: rs1325130737
• gnomAD v2: 2-27597928-A-G
• gnomAD v4: 2-27375061-A-G
• MyVariant Identifiers: chr2:g.27597928A>G (hg19) ; chr2:g.27375061A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375061A>G , CM000664.2:g.27375061A>G	GRCh38
NC_000002.11:g.27597928A>G , CM000664.1:g.27597928A>G	GRCh37
NC_000002.10:g.27451432A>G	NCBI36
NG_009305.1:g.397T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.682A>G MANE Select	ENSP00000233575.2:p.Thr228Ala
ENST00000233575.6:c.682A>G	ENSP00000233575.2:p.Thr228Ala
ENST00000427123.5:c.*492A>G	ENSP00000405399.1:n.*492A>G
ENST00000440760.5:c.*527A>G	ENSP00000399727.1:n.*527A>G
ENST00000453453.1:c.*209A>G	ENSP00000401922.1:n.*209A>G
ENST00000493711.1:n.399A>G
ENST00000494893.5:n.858A>G
ENST00000537606.5:c.607A>G	ENSP00000439208.1:p.Thr203Ala
NM_001267059.1:c.646A>G	NP_001253988.1:p.Thr216Ala
NM_001267060.1:c.607A>G	NP_001253989.1:p.Thr203Ala
NM_001267061.1:c.622A>G	NP_001253990.1:p.Thr208Ala
NM_014748.3:c.682A>G	NP_055563.1:p.Thr228Ala
NR_049782.1:n.1055A>G
NR_049783.1:n.1028A>G
NR_049784.1:n.1004A>G
NR_049785.1:n.937A>G
NR_049786.1:n.886A>G
NR_049787.1:n.737A>G
NR_049788.1:n.667A>G
XM_011533203.1:c.40A>G	XP_011531505.1:p.Thr14Ala
XM_011533203.2:c.40A>G	XP_011531505.1:p.Thr14Ala
XM_017005405.2:c.40A>G	XP_016860894.1:p.Thr14Ala
NM_014748.4:c.682A>G MANE Select	NP_055563.1:p.Thr228Ala
NM_001267059.2:c.646A>G	NP_001253988.1:p.Thr216Ala
NM_001267061.2:c.622A>G	NP_001253990.1:p.Thr208Ala
NR_049782.2:n.935A>G
NR_049783.2:n.908A>G
NR_049784.2:n.884A>G
NR_049785.2:n.817A>G
NR_049786.2:n.766A>G
NR_049787.2:n.617A>G
NR_049788.2:n.547A>G
NM_001267060.2:c.607A>G	NP_001253989.1:p.Thr203Ala