Canonical Allele Identifier: CA44524709

Gene: SNX17

Linked Data

• dbSNP Id: rs137975752
• gnomAD v2: 2-27598373-T-C
• gnomAD v4: 2-27375506-T-C
• MyVariant Identifiers: chr2:g.27598373T>C (hg19) ; chr2:g.27375506T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.775T>C MANE Select	ENSP00000233575.2:p.Phe259Leu
ENST00000233575.6:c.775T>C	ENSP00000233575.2:p.Phe259Leu
ENST00000427123.5:c.*585T>C	ENSP00000405399.1:n.*585T>C
ENST00000440760.5:c.*620T>C	ENSP00000399727.1:n.*620T>C
ENST00000453453.1:c.*302T>C	ENSP00000401922.1:n.*302T>C
ENST00000493711.1:n.492T>C
ENST00000494893.5:n.951T>C
ENST00000537606.5:c.700T>C	ENSP00000439208.1:p.Phe234Leu
NM_001267059.1:c.739T>C	NP_001253988.1:p.Phe247Leu
NM_001267060.1:c.700T>C	NP_001253989.1:p.Phe234Leu
NM_001267061.1:c.715T>C	NP_001253990.1:p.Phe239Leu
NM_014748.3:c.775T>C	NP_055563.1:p.Phe259Leu
NR_049782.1:n.1148T>C
NR_049783.1:n.1121T>C
NR_049784.1:n.1097T>C
NR_049785.1:n.1030T>C
NR_049786.1:n.979T>C
NR_049787.1:n.830T>C
NR_049788.1:n.760T>C
XM_011533203.1:c.133T>C	XP_011531505.1:p.Phe45Leu
XM_011533203.2:c.133T>C	XP_011531505.1:p.Phe45Leu
XM_017005405.2:c.133T>C	XP_016860894.1:p.Phe45Leu
NM_014748.4:c.775T>C MANE Select	NP_055563.1:p.Phe259Leu
NM_001267059.2:c.739T>C	NP_001253988.1:p.Phe247Leu
NM_001267061.2:c.715T>C	NP_001253990.1:p.Phe239Leu
NR_049782.2:n.1028T>C
NR_049783.2:n.1001T>C
NR_049784.2:n.977T>C
NR_049785.2:n.910T>C
NR_049786.2:n.859T>C
NR_049787.2:n.710T>C
NR_049788.2:n.640T>C
NM_001267060.2:c.700T>C	NP_001253989.1:p.Phe234Leu