Canonical Allele Identifier: CA767386713

Gene: SNX17

Linked Data

• dbSNP Id: rs1301646835
• gnomAD v3: 2-27375488-G-C
• gnomAD v4: 2-27375488-G-C
• MyVariant Identifiers: chr2:g.27598355G>C (hg19) ; chr2:g.27375488G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375488G>C , CM000664.2:g.27375488G>C	GRCh38
NC_000002.11:g.27598355G>C , CM000664.1:g.27598355G>C	GRCh37
NC_000002.10:g.27451859G>C	NCBI36
NG_028219.1:g.10257C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.775-18G>C MANE Select	ENSP00000233575.2:n.775-18G>C
ENST00000233575.6:c.775-18G>C	ENSP00000233575.2:n.775-18G>C
ENST00000427123.5:c.*585-18G>C	ENSP00000405399.1:n.*585-18G>C
ENST00000440760.5:c.*620-18G>C	ENSP00000399727.1:n.*620-18G>C
ENST00000453453.1:c.*302-18G>C	ENSP00000401922.1:n.*302-18G>C
ENST00000493711.1:n.492-18G>C
ENST00000494893.5:n.951-18G>C
ENST00000537606.5:c.700-18G>C	ENSP00000439208.1:n.700-18G>C
NM_001267059.1:c.739-18G>C	NP_001253988.1:n.739-18G>C
NM_001267060.1:c.700-18G>C	NP_001253989.1:n.700-18G>C
NM_001267061.1:c.715-18G>C	NP_001253990.1:n.715-18G>C
NM_014748.3:c.775-18G>C	NP_055563.1:n.775-18G>C
NR_049782.1:n.1148-18G>C
NR_049783.1:n.1121-18G>C
NR_049784.1:n.1097-18G>C
NR_049785.1:n.1030-18G>C
NR_049786.1:n.979-18G>C
NR_049787.1:n.830-18G>C
NR_049788.1:n.760-18G>C
XM_011533203.1:c.133-18G>C	XP_011531505.1:n.133-18G>C
XM_011533203.2:c.133-18G>C	XP_011531505.1:n.133-18G>C
XM_017005405.2:c.133-18G>C	XP_016860894.1:n.133-18G>C
NM_014748.4:c.775-18G>C MANE Select	NP_055563.1:n.775-18G>C
NM_001267059.2:c.739-18G>C	NP_001253988.1:n.739-18G>C
NM_001267061.2:c.715-18G>C	NP_001253990.1:n.715-18G>C
NR_049782.2:n.1028-18G>C
NR_049783.2:n.1001-18G>C
NR_049784.2:n.977-18G>C
NR_049785.2:n.910-18G>C
NR_049786.2:n.859-18G>C
NR_049787.2:n.710-18G>C
NR_049788.2:n.640-18G>C
NM_001267060.2:c.700-18G>C	NP_001253989.1:n.700-18G>C