Canonical Allele Identifier: CA346210026

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598392C>G (hg19) ; chr2:g.27375525C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.794C>G MANE Select	ENSP00000233575.2:p.Thr265Arg
ENST00000233575.6:c.794C>G	ENSP00000233575.2:p.Thr265Arg
ENST00000427123.5:c.*604C>G	ENSP00000405399.1:n.*604C>G
ENST00000440760.5:c.*639C>G	ENSP00000399727.1:n.*639C>G
ENST00000453453.1:c.*321C>G	ENSP00000401922.1:n.*321C>G
ENST00000493711.1:n.511C>G
ENST00000537606.5:c.719C>G	ENSP00000439208.1:p.Thr240Arg
NM_001267059.1:c.758C>G	NP_001253988.1:p.Thr253Arg
NM_001267060.1:c.719C>G	NP_001253989.1:p.Thr240Arg
NM_001267061.1:c.734C>G	NP_001253990.1:p.Thr245Arg
NM_014748.3:c.794C>G	NP_055563.1:p.Thr265Arg
NR_049782.1:n.1167C>G
NR_049783.1:n.1140C>G
NR_049784.1:n.1116C>G
NR_049785.1:n.1049C>G
NR_049786.1:n.998C>G
NR_049787.1:n.849C>G
NR_049788.1:n.779C>G
XM_011533203.1:c.152C>G	XP_011531505.1:p.Thr51Arg
XM_011533203.2:c.152C>G	XP_011531505.1:p.Thr51Arg
XM_017005405.2:c.152C>G	XP_016860894.1:p.Thr51Arg
NM_014748.4:c.794C>G MANE Select	NP_055563.1:p.Thr265Arg
NM_001267059.2:c.758C>G	NP_001253988.1:p.Thr253Arg
NM_001267061.2:c.734C>G	NP_001253990.1:p.Thr245Arg
NR_049782.2:n.1047C>G
NR_049783.2:n.1020C>G
NR_049784.2:n.996C>G
NR_049785.2:n.929C>G
NR_049786.2:n.878C>G
NR_049787.2:n.729C>G
NR_049788.2:n.659C>G
NM_001267060.2:c.719C>G	NP_001253989.1:p.Thr240Arg