Canonical Allele Identifier: CA346209949

Gene: SNX17

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.775T>G MANE Select	ENSP00000233575.2:p.Phe259Val
ENST00000233575.6:c.775T>G	ENSP00000233575.2:p.Phe259Val
ENST00000427123.5:c.*585T>G	ENSP00000405399.1:n.*585T>G
ENST00000440760.5:c.*620T>G	ENSP00000399727.1:n.*620T>G
ENST00000453453.1:c.*302T>G	ENSP00000401922.1:n.*302T>G
ENST00000493711.1:n.492T>G
ENST00000494893.5:n.951T>G
ENST00000537606.5:c.700T>G	ENSP00000439208.1:p.Phe234Val
NM_001267059.1:c.739T>G	NP_001253988.1:p.Phe247Val
NM_001267060.1:c.700T>G	NP_001253989.1:p.Phe234Val
NM_001267061.1:c.715T>G	NP_001253990.1:p.Phe239Val
NM_014748.3:c.775T>G	NP_055563.1:p.Phe259Val
NR_049782.1:n.1148T>G
NR_049783.1:n.1121T>G
NR_049784.1:n.1097T>G
NR_049785.1:n.1030T>G
NR_049786.1:n.979T>G
NR_049787.1:n.830T>G
NR_049788.1:n.760T>G
XM_011533203.1:c.133T>G	XP_011531505.1:p.Phe45Val
XM_011533203.2:c.133T>G	XP_011531505.1:p.Phe45Val
XM_017005405.2:c.133T>G	XP_016860894.1:p.Phe45Val
NM_014748.4:c.775T>G MANE Select	NP_055563.1:p.Phe259Val
NM_001267059.2:c.739T>G	NP_001253988.1:p.Phe247Val
NM_001267061.2:c.715T>G	NP_001253990.1:p.Phe239Val
NR_049782.2:n.1028T>G
NR_049783.2:n.1001T>G
NR_049784.2:n.977T>G
NR_049785.2:n.910T>G
NR_049786.2:n.859T>G
NR_049787.2:n.710T>G
NR_049788.2:n.640T>G
NM_001267060.2:c.700T>G	NP_001253989.1:p.Phe234Val