Canonical Allele Identifier: CA346209951

Gene: SNX17

Linked Data

• gnomAD v4: 2-27375507-T-A
• MyVariant Identifiers: chr2:g.27598374T>A (hg19) ; chr2:g.27375507T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.776T>A MANE Select	ENSP00000233575.2:p.Phe259Tyr
ENST00000233575.6:c.776T>A	ENSP00000233575.2:p.Phe259Tyr
ENST00000427123.5:c.*586T>A	ENSP00000405399.1:n.*586T>A
ENST00000440760.5:c.*621T>A	ENSP00000399727.1:n.*621T>A
ENST00000453453.1:c.*303T>A	ENSP00000401922.1:n.*303T>A
ENST00000493711.1:n.493T>A
ENST00000494893.5:n.952T>A
ENST00000537606.5:c.701T>A	ENSP00000439208.1:p.Phe234Tyr
NM_001267059.1:c.740T>A	NP_001253988.1:p.Phe247Tyr
NM_001267060.1:c.701T>A	NP_001253989.1:p.Phe234Tyr
NM_001267061.1:c.716T>A	NP_001253990.1:p.Phe239Tyr
NM_014748.3:c.776T>A	NP_055563.1:p.Phe259Tyr
NR_049782.1:n.1149T>A
NR_049783.1:n.1122T>A
NR_049784.1:n.1098T>A
NR_049785.1:n.1031T>A
NR_049786.1:n.980T>A
NR_049787.1:n.831T>A
NR_049788.1:n.761T>A
XM_011533203.1:c.134T>A	XP_011531505.1:p.Phe45Tyr
XM_011533203.2:c.134T>A	XP_011531505.1:p.Phe45Tyr
XM_017005405.2:c.134T>A	XP_016860894.1:p.Phe45Tyr
NM_014748.4:c.776T>A MANE Select	NP_055563.1:p.Phe259Tyr
NM_001267059.2:c.740T>A	NP_001253988.1:p.Phe247Tyr
NM_001267061.2:c.716T>A	NP_001253990.1:p.Phe239Tyr
NR_049782.2:n.1029T>A
NR_049783.2:n.1002T>A
NR_049784.2:n.978T>A
NR_049785.2:n.911T>A
NR_049786.2:n.860T>A
NR_049787.2:n.711T>A
NR_049788.2:n.641T>A
NM_001267060.2:c.701T>A	NP_001253989.1:p.Phe234Tyr