Canonical Allele Identifier: CA44524533

Gene: SNX17

Linked Data

• dbSNP Id: rs905229938
• gnomAD v3: 2-27375386-C-T
• gnomAD v4: 2-27375386-C-T
• MyVariant Identifiers: chr2:g.27598253C>T (hg19) ; chr2:g.27375386C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375386C>T , CM000664.2:g.27375386C>T	GRCh38
NC_000002.11:g.27598253C>T , CM000664.1:g.27598253C>T	GRCh37
NC_000002.10:g.27451757C>T	NCBI36
NG_009305.1:g.72G>A
NG_028219.1:g.10359G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.775-120C>T MANE Select	ENSP00000233575.2:n.775-120C>T
ENST00000233575.6:c.775-120C>T	ENSP00000233575.2:n.775-120C>T
ENST00000427123.5:c.*585-120C>T	ENSP00000405399.1:n.*585-120C>T
ENST00000440760.5:c.*620-120C>T	ENSP00000399727.1:n.*620-120C>T
ENST00000453453.1:c.*302-120C>T	ENSP00000401922.1:n.*302-120C>T
ENST00000493711.1:n.492-120C>T
ENST00000494893.5:n.951-120C>T
ENST00000537606.5:c.700-120C>T	ENSP00000439208.1:n.700-120C>T
NM_001267059.1:c.739-120C>T	NP_001253988.1:n.739-120C>T
NM_001267060.1:c.700-120C>T	NP_001253989.1:n.700-120C>T
NM_001267061.1:c.715-120C>T	NP_001253990.1:n.715-120C>T
NM_014748.3:c.775-120C>T	NP_055563.1:n.775-120C>T
NR_049782.1:n.1148-120C>T
NR_049783.1:n.1121-120C>T
NR_049784.1:n.1097-120C>T
NR_049785.1:n.1030-120C>T
NR_049786.1:n.979-120C>T
NR_049787.1:n.830-120C>T
NR_049788.1:n.760-120C>T
XM_011533203.1:c.133-120C>T	XP_011531505.1:n.133-120C>T
XM_011533203.2:c.133-120C>T	XP_011531505.1:n.133-120C>T
XM_017005405.2:c.133-120C>T	XP_016860894.1:n.133-120C>T
NM_014748.4:c.775-120C>T MANE Select	NP_055563.1:n.775-120C>T
NM_001267059.2:c.739-120C>T	NP_001253988.1:n.739-120C>T
NM_001267061.2:c.715-120C>T	NP_001253990.1:n.715-120C>T
NR_049782.2:n.1028-120C>T
NR_049783.2:n.1001-120C>T
NR_049784.2:n.977-120C>T
NR_049785.2:n.910-120C>T
NR_049786.2:n.859-120C>T
NR_049787.2:n.710-120C>T
NR_049788.2:n.640-120C>T
NM_001267060.2:c.700-120C>T	NP_001253989.1:n.700-120C>T