Canonical Allele Identifier: CA531449124

Gene: SNX17

Linked Data

• dbSNP Id: rs1247457309
• gnomAD v2: 2-27597908-G-A
• gnomAD v4: 2-27375041-G-A
• MyVariant Identifiers: chr2:g.27597908G>A (hg19) ; chr2:g.27375041G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375041G>A , CM000664.2:g.27375041G>A	GRCh38
NC_000002.11:g.27597908G>A , CM000664.1:g.27597908G>A	GRCh37
NC_000002.10:g.27451412G>A	NCBI36
NG_009305.1:g.417C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.682-20G>A MANE Select	ENSP00000233575.2:n.682-20G>A
ENST00000233575.6:c.682-20G>A	ENSP00000233575.2:n.682-20G>A
ENST00000427123.5:c.*492-20G>A	ENSP00000405399.1:n.*492-20G>A
ENST00000440760.5:c.*527-20G>A	ENSP00000399727.1:n.*527-20G>A
ENST00000453453.1:c.*209-20G>A	ENSP00000401922.1:n.*209-20G>A
ENST00000493711.1:n.379G>A
ENST00000494893.5:n.858-20G>A
ENST00000537606.5:c.607-20G>A	ENSP00000439208.1:n.607-20G>A
NM_001267059.1:c.646-20G>A	NP_001253988.1:n.646-20G>A
NM_001267060.1:c.607-20G>A	NP_001253989.1:n.607-20G>A
NM_001267061.1:c.622-20G>A	NP_001253990.1:n.622-20G>A
NM_014748.3:c.682-20G>A	NP_055563.1:n.682-20G>A
NR_049782.1:n.1055-20G>A
NR_049783.1:n.1028-20G>A
NR_049784.1:n.1004-20G>A
NR_049785.1:n.937-20G>A
NR_049786.1:n.886-20G>A
NR_049787.1:n.737-20G>A
NR_049788.1:n.667-20G>A
XM_011533203.1:c.40-20G>A	XP_011531505.1:n.40-20G>A
XM_011533203.2:c.40-20G>A	XP_011531505.1:n.40-20G>A
XM_017005405.2:c.40-20G>A	XP_016860894.1:n.40-20G>A
NM_014748.4:c.682-20G>A MANE Select	NP_055563.1:n.682-20G>A
NM_001267059.2:c.646-20G>A	NP_001253988.1:n.646-20G>A
NM_001267061.2:c.622-20G>A	NP_001253990.1:n.622-20G>A
NR_049782.2:n.935-20G>A
NR_049783.2:n.908-20G>A
NR_049784.2:n.884-20G>A
NR_049785.2:n.817-20G>A
NR_049786.2:n.766-20G>A
NR_049787.2:n.617-20G>A
NR_049788.2:n.547-20G>A
NM_001267060.2:c.607-20G>A	NP_001253989.1:n.607-20G>A