Canonical Allele Identifier: CA346209971

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598379A>T (hg19) ; chr2:g.27375512A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375512A>T , CM000664.2:g.27375512A>T	GRCh38
NC_000002.11:g.27598379A>T , CM000664.1:g.27598379A>T	GRCh37
NC_000002.10:g.27451883A>T	NCBI36
NG_028219.1:g.10233T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.781A>T MANE Select	ENSP00000233575.2:p.Arg261Ter
ENST00000233575.6:c.781A>T	ENSP00000233575.2:p.Arg261Ter
ENST00000427123.5:c.*591A>T	ENSP00000405399.1:n.*591A>T
ENST00000440760.5:c.*626A>T	ENSP00000399727.1:n.*626A>T
ENST00000453453.1:c.*308A>T	ENSP00000401922.1:n.*308A>T
ENST00000493711.1:n.498A>T
ENST00000494893.5:n.957A>T
ENST00000537606.5:c.706A>T	ENSP00000439208.1:p.Arg236Ter
NM_001267059.1:c.745A>T	NP_001253988.1:p.Arg249Ter
NM_001267060.1:c.706A>T	NP_001253989.1:p.Arg236Ter
NM_001267061.1:c.721A>T	NP_001253990.1:p.Arg241Ter
NM_014748.3:c.781A>T	NP_055563.1:p.Arg261Ter
NR_049782.1:n.1154A>T
NR_049783.1:n.1127A>T
NR_049784.1:n.1103A>T
NR_049785.1:n.1036A>T
NR_049786.1:n.985A>T
NR_049787.1:n.836A>T
NR_049788.1:n.766A>T
XM_011533203.1:c.139A>T	XP_011531505.1:p.Arg47Ter
XM_011533203.2:c.139A>T	XP_011531505.1:p.Arg47Ter
XM_017005405.2:c.139A>T	XP_016860894.1:p.Arg47Ter
NM_014748.4:c.781A>T MANE Select	NP_055563.1:p.Arg261Ter
NM_001267059.2:c.745A>T	NP_001253988.1:p.Arg249Ter
NM_001267061.2:c.721A>T	NP_001253990.1:p.Arg241Ter
NR_049782.2:n.1034A>T
NR_049783.2:n.1007A>T
NR_049784.2:n.983A>T
NR_049785.2:n.916A>T
NR_049786.2:n.865A>T
NR_049787.2:n.716A>T
NR_049788.2:n.646A>T
NM_001267060.2:c.706A>T	NP_001253989.1:p.Arg236Ter