Canonical Allele Identifier: CA346209856

Gene: SNX17

Linked Data

• gnomAD v4: 2-27375153-G-T
• MyVariant Identifiers: chr2:g.27598020G>T (hg19) ; chr2:g.27375153G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375153G>T , CM000664.2:g.27375153G>T	GRCh38
NC_000002.11:g.27598020G>T , CM000664.1:g.27598020G>T	GRCh37
NC_000002.10:g.27451524G>T	NCBI36
NG_009305.1:g.305C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.774G>T MANE Select	ENSP00000233575.2:p.Glu258Asp
ENST00000233575.6:c.774G>T	ENSP00000233575.2:p.Glu258Asp
ENST00000427123.5:c.*584G>T	ENSP00000405399.1:n.*584G>T
ENST00000440760.5:c.*619G>T	ENSP00000399727.1:n.*619G>T
ENST00000453453.1:c.*301G>T	ENSP00000401922.1:n.*301G>T
ENST00000493711.1:n.491G>T
ENST00000494893.5:n.950G>T
ENST00000537606.5:c.699G>T	ENSP00000439208.1:p.Glu233Asp
NM_001267059.1:c.738G>T	NP_001253988.1:p.Glu246Asp
NM_001267060.1:c.699G>T	NP_001253989.1:p.Glu233Asp
NM_001267061.1:c.714G>T	NP_001253990.1:p.Glu238Asp
NM_014748.3:c.774G>T	NP_055563.1:p.Glu258Asp
NR_049782.1:n.1147G>T
NR_049783.1:n.1120G>T
NR_049784.1:n.1096G>T
NR_049785.1:n.1029G>T
NR_049786.1:n.978G>T
NR_049787.1:n.829G>T
NR_049788.1:n.759G>T
XM_011533203.1:c.132G>T	XP_011531505.1:p.Glu44Asp
XM_011533203.2:c.132G>T	XP_011531505.1:p.Glu44Asp
XM_017005405.2:c.132G>T	XP_016860894.1:p.Glu44Asp
NM_014748.4:c.774G>T MANE Select	NP_055563.1:p.Glu258Asp
NM_001267059.2:c.738G>T	NP_001253988.1:p.Glu246Asp
NM_001267061.2:c.714G>T	NP_001253990.1:p.Glu238Asp
NR_049782.2:n.1027G>T
NR_049783.2:n.1000G>T
NR_049784.2:n.976G>T
NR_049785.2:n.909G>T
NR_049786.2:n.858G>T
NR_049787.2:n.709G>T
NR_049788.2:n.639G>T
NM_001267060.2:c.699G>T	NP_001253989.1:p.Glu233Asp