Canonical Allele Identifier: CA346209947

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598373T>A (hg19) ; chr2:g.27375506T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375506T>A , CM000664.2:g.27375506T>A	GRCh38
NC_000002.11:g.27598373T>A , CM000664.1:g.27598373T>A	GRCh37
NC_000002.10:g.27451877T>A	NCBI36
NG_028219.1:g.10239A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.775T>A MANE Select	ENSP00000233575.2:p.Phe259Ile
ENST00000233575.6:c.775T>A	ENSP00000233575.2:p.Phe259Ile
ENST00000427123.5:c.*585T>A	ENSP00000405399.1:n.*585T>A
ENST00000440760.5:c.*620T>A	ENSP00000399727.1:n.*620T>A
ENST00000453453.1:c.*302T>A	ENSP00000401922.1:n.*302T>A
ENST00000493711.1:n.492T>A
ENST00000494893.5:n.951T>A
ENST00000537606.5:c.700T>A	ENSP00000439208.1:p.Phe234Ile
NM_001267059.1:c.739T>A	NP_001253988.1:p.Phe247Ile
NM_001267060.1:c.700T>A	NP_001253989.1:p.Phe234Ile
NM_001267061.1:c.715T>A	NP_001253990.1:p.Phe239Ile
NM_014748.3:c.775T>A	NP_055563.1:p.Phe259Ile
NR_049782.1:n.1148T>A
NR_049783.1:n.1121T>A
NR_049784.1:n.1097T>A
NR_049785.1:n.1030T>A
NR_049786.1:n.979T>A
NR_049787.1:n.830T>A
NR_049788.1:n.760T>A
XM_011533203.1:c.133T>A	XP_011531505.1:p.Phe45Ile
XM_011533203.2:c.133T>A	XP_011531505.1:p.Phe45Ile
XM_017005405.2:c.133T>A	XP_016860894.1:p.Phe45Ile
NM_014748.4:c.775T>A MANE Select	NP_055563.1:p.Phe259Ile
NM_001267059.2:c.739T>A	NP_001253988.1:p.Phe247Ile
NM_001267061.2:c.715T>A	NP_001253990.1:p.Phe239Ile
NR_049782.2:n.1028T>A
NR_049783.2:n.1001T>A
NR_049784.2:n.977T>A
NR_049785.2:n.910T>A
NR_049786.2:n.859T>A
NR_049787.2:n.710T>A
NR_049788.2:n.640T>A
NM_001267060.2:c.700T>A	NP_001253989.1:p.Phe234Ile