Canonical Allele Identifier: CA44524334

Gene: SNX17

Linked Data

• dbSNP Id: rs552146863
• gnomAD v2: 2-27598088-C-T
• gnomAD v3: 2-27375221-C-T
• gnomAD v4: 2-27375221-C-T
• MyVariant Identifiers: chr2:g.27598088C>T (hg19) ; chr2:g.27375221C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375221C>T , CM000664.2:g.27375221C>T	GRCh38
NC_000002.11:g.27598088C>T , CM000664.1:g.27598088C>T	GRCh37
NC_000002.10:g.27451592C>T	NCBI36
NG_009305.1:g.237G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.774+68C>T MANE Select	ENSP00000233575.2:n.774+68C>T
ENST00000233575.6:c.774+68C>T	ENSP00000233575.2:n.774+68C>T
ENST00000427123.5:c.*584+68C>T	ENSP00000405399.1:n.*584+68C>T
ENST00000440760.5:c.*619+68C>T	ENSP00000399727.1:n.*619+68C>T
ENST00000453453.1:c.*301+68C>T	ENSP00000401922.1:n.*301+68C>T
ENST00000493711.1:n.491+68C>T
ENST00000494893.5:n.950+68C>T
ENST00000537606.5:c.699+68C>T	ENSP00000439208.1:n.699+68C>T
NM_001267059.1:c.738+68C>T	NP_001253988.1:n.738+68C>T
NM_001267060.1:c.699+68C>T	NP_001253989.1:n.699+68C>T
NM_001267061.1:c.714+68C>T	NP_001253990.1:n.714+68C>T
NM_014748.3:c.774+68C>T	NP_055563.1:n.774+68C>T
NR_049782.1:n.1147+68C>T
NR_049783.1:n.1120+68C>T
NR_049784.1:n.1096+68C>T
NR_049785.1:n.1029+68C>T
NR_049786.1:n.978+68C>T
NR_049787.1:n.829+68C>T
NR_049788.1:n.759+68C>T
XM_011533203.1:c.132+68C>T	XP_011531505.1:n.132+68C>T
XM_011533203.2:c.132+68C>T	XP_011531505.1:n.132+68C>T
XM_017005405.2:c.132+68C>T	XP_016860894.1:n.132+68C>T
NM_014748.4:c.774+68C>T MANE Select	NP_055563.1:n.774+68C>T
NM_001267059.2:c.738+68C>T	NP_001253988.1:n.738+68C>T
NM_001267061.2:c.714+68C>T	NP_001253990.1:n.714+68C>T
NR_049782.2:n.1027+68C>T
NR_049783.2:n.1000+68C>T
NR_049784.2:n.976+68C>T
NR_049785.2:n.909+68C>T
NR_049786.2:n.858+68C>T
NR_049787.2:n.709+68C>T
NR_049788.2:n.639+68C>T
NM_001267060.2:c.699+68C>T	NP_001253989.1:n.699+68C>T