Canonical Allele Identifier: CA346209955

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598374T>G (hg19) ; chr2:g.27375507T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375507T>G , CM000664.2:g.27375507T>G	GRCh38
NC_000002.11:g.27598374T>G , CM000664.1:g.27598374T>G	GRCh37
NC_000002.10:g.27451878T>G	NCBI36
NG_028219.1:g.10238A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.776T>G MANE Select	ENSP00000233575.2:p.Phe259Cys
ENST00000233575.6:c.776T>G	ENSP00000233575.2:p.Phe259Cys
ENST00000427123.5:c.*586T>G	ENSP00000405399.1:n.*586T>G
ENST00000440760.5:c.*621T>G	ENSP00000399727.1:n.*621T>G
ENST00000453453.1:c.*303T>G	ENSP00000401922.1:n.*303T>G
ENST00000493711.1:n.493T>G
ENST00000494893.5:n.952T>G
ENST00000537606.5:c.701T>G	ENSP00000439208.1:p.Phe234Cys
NM_001267059.1:c.740T>G	NP_001253988.1:p.Phe247Cys
NM_001267060.1:c.701T>G	NP_001253989.1:p.Phe234Cys
NM_001267061.1:c.716T>G	NP_001253990.1:p.Phe239Cys
NM_014748.3:c.776T>G	NP_055563.1:p.Phe259Cys
NR_049782.1:n.1149T>G
NR_049783.1:n.1122T>G
NR_049784.1:n.1098T>G
NR_049785.1:n.1031T>G
NR_049786.1:n.980T>G
NR_049787.1:n.831T>G
NR_049788.1:n.761T>G
XM_011533203.1:c.134T>G	XP_011531505.1:p.Phe45Cys
XM_011533203.2:c.134T>G	XP_011531505.1:p.Phe45Cys
XM_017005405.2:c.134T>G	XP_016860894.1:p.Phe45Cys
NM_014748.4:c.776T>G MANE Select	NP_055563.1:p.Phe259Cys
NM_001267059.2:c.740T>G	NP_001253988.1:p.Phe247Cys
NM_001267061.2:c.716T>G	NP_001253990.1:p.Phe239Cys
NR_049782.2:n.1029T>G
NR_049783.2:n.1002T>G
NR_049784.2:n.978T>G
NR_049785.2:n.911T>G
NR_049786.2:n.860T>G
NR_049787.2:n.711T>G
NR_049788.2:n.641T>G
NM_001267060.2:c.701T>G	NP_001253989.1:p.Phe234Cys