Canonical Allele Identifier: CA44524714

Gene: SNX17

Linked Data

• ClinVar Variation Id: 2545232
• ClinVar RCV Id: RCV004314955
• dbSNP Id: rs981370620
• gnomAD v2: 2-27598392-C-T
• gnomAD v3: 2-27375525-C-T
• gnomAD v4: 2-27375525-C-T
• MyVariant Identifiers: chr2:g.27598392C>T (hg19) ; chr2:g.27375525C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375525C>T , CM000664.2:g.27375525C>T	GRCh38
NC_000002.11:g.27598392C>T , CM000664.1:g.27598392C>T	GRCh37
NC_000002.10:g.27451896C>T	NCBI36
NG_028219.1:g.10220G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.794C>T MANE Select	ENSP00000233575.2:p.Thr265Met
ENST00000233575.6:c.794C>T	ENSP00000233575.2:p.Thr265Met
ENST00000427123.5:c.*604C>T	ENSP00000405399.1:n.*604C>T
ENST00000440760.5:c.*639C>T	ENSP00000399727.1:n.*639C>T
ENST00000453453.1:c.*321C>T	ENSP00000401922.1:n.*321C>T
ENST00000493711.1:n.511C>T
ENST00000537606.5:c.719C>T	ENSP00000439208.1:p.Thr240Met
NM_001267059.1:c.758C>T	NP_001253988.1:p.Thr253Met
NM_001267060.1:c.719C>T	NP_001253989.1:p.Thr240Met
NM_001267061.1:c.734C>T	NP_001253990.1:p.Thr245Met
NM_014748.3:c.794C>T	NP_055563.1:p.Thr265Met
NR_049782.1:n.1167C>T
NR_049783.1:n.1140C>T
NR_049784.1:n.1116C>T
NR_049785.1:n.1049C>T
NR_049786.1:n.998C>T
NR_049787.1:n.849C>T
NR_049788.1:n.779C>T
XM_011533203.1:c.152C>T	XP_011531505.1:p.Thr51Met
XM_011533203.2:c.152C>T	XP_011531505.1:p.Thr51Met
XM_017005405.2:c.152C>T	XP_016860894.1:p.Thr51Met
NM_014748.4:c.794C>T MANE Select	NP_055563.1:p.Thr265Met
NM_001267059.2:c.758C>T	NP_001253988.1:p.Thr253Met
NM_001267061.2:c.734C>T	NP_001253990.1:p.Thr245Met
NR_049782.2:n.1047C>T
NR_049783.2:n.1020C>T
NR_049784.2:n.996C>T
NR_049785.2:n.929C>T
NR_049786.2:n.878C>T
NR_049787.2:n.729C>T
NR_049788.2:n.659C>T
NM_001267060.2:c.719C>T	NP_001253989.1:p.Thr240Met