Canonical Allele Identifier: CA531449146

Gene: SNX17

Linked Data

• dbSNP Id: rs1450814609
• gnomAD v2: 2-27598031-C-T
• gnomAD v4: 2-27375164-C-T
• MyVariant Identifiers: chr2:g.27598031C>T (hg19) ; chr2:g.27375164C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375164C>T , CM000664.2:g.27375164C>T	GRCh38
NC_000002.11:g.27598031C>T , CM000664.1:g.27598031C>T	GRCh37
NC_000002.10:g.27451535C>T	NCBI36
NG_009305.1:g.294G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.774+11C>T MANE Select	ENSP00000233575.2:n.774+11C>T
ENST00000233575.6:c.774+11C>T	ENSP00000233575.2:n.774+11C>T
ENST00000427123.5:c.*584+11C>T	ENSP00000405399.1:n.*584+11C>T
ENST00000440760.5:c.*619+11C>T	ENSP00000399727.1:n.*619+11C>T
ENST00000453453.1:c.*301+11C>T	ENSP00000401922.1:n.*301+11C>T
ENST00000493711.1:n.491+11C>T
ENST00000494893.5:n.950+11C>T
ENST00000537606.5:c.699+11C>T	ENSP00000439208.1:n.699+11C>T
NM_001267059.1:c.738+11C>T	NP_001253988.1:n.738+11C>T
NM_001267060.1:c.699+11C>T	NP_001253989.1:n.699+11C>T
NM_001267061.1:c.714+11C>T	NP_001253990.1:n.714+11C>T
NM_014748.3:c.774+11C>T	NP_055563.1:n.774+11C>T
NR_049782.1:n.1147+11C>T
NR_049783.1:n.1120+11C>T
NR_049784.1:n.1096+11C>T
NR_049785.1:n.1029+11C>T
NR_049786.1:n.978+11C>T
NR_049787.1:n.829+11C>T
NR_049788.1:n.759+11C>T
XM_011533203.1:c.132+11C>T	XP_011531505.1:n.132+11C>T
XM_011533203.2:c.132+11C>T	XP_011531505.1:n.132+11C>T
XM_017005405.2:c.132+11C>T	XP_016860894.1:n.132+11C>T
NM_014748.4:c.774+11C>T MANE Select	NP_055563.1:n.774+11C>T
NM_001267059.2:c.738+11C>T	NP_001253988.1:n.738+11C>T
NM_001267061.2:c.714+11C>T	NP_001253990.1:n.714+11C>T
NR_049782.2:n.1027+11C>T
NR_049783.2:n.1000+11C>T
NR_049784.2:n.976+11C>T
NR_049785.2:n.909+11C>T
NR_049786.2:n.858+11C>T
NR_049787.2:n.709+11C>T
NR_049788.2:n.639+11C>T
NM_001267060.2:c.699+11C>T	NP_001253989.1:n.699+11C>T