Canonical Allele Identifier: CA346209664

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597937G>T (hg19) ; chr2:g.27375070G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375070G>T , CM000664.2:g.27375070G>T	GRCh38
NC_000002.11:g.27597937G>T , CM000664.1:g.27597937G>T	GRCh37
NC_000002.10:g.27451441G>T	NCBI36
NG_009305.1:g.388C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.691G>T MANE Select	ENSP00000233575.2:p.Asp231Tyr
ENST00000233575.6:c.691G>T	ENSP00000233575.2:p.Asp231Tyr
ENST00000427123.5:c.*501G>T	ENSP00000405399.1:n.*501G>T
ENST00000440760.5:c.*536G>T	ENSP00000399727.1:n.*536G>T
ENST00000453453.1:c.*218G>T	ENSP00000401922.1:n.*218G>T
ENST00000493711.1:n.408G>T
ENST00000494893.5:n.867G>T
ENST00000537606.5:c.616G>T	ENSP00000439208.1:p.Asp206Tyr
NM_001267059.1:c.655G>T	NP_001253988.1:p.Asp219Tyr
NM_001267060.1:c.616G>T	NP_001253989.1:p.Asp206Tyr
NM_001267061.1:c.631G>T	NP_001253990.1:p.Asp211Tyr
NM_014748.3:c.691G>T	NP_055563.1:p.Asp231Tyr
NR_049782.1:n.1064G>T
NR_049783.1:n.1037G>T
NR_049784.1:n.1013G>T
NR_049785.1:n.946G>T
NR_049786.1:n.895G>T
NR_049787.1:n.746G>T
NR_049788.1:n.676G>T
XM_011533203.1:c.49G>T	XP_011531505.1:p.Asp17Tyr
XM_011533203.2:c.49G>T	XP_011531505.1:p.Asp17Tyr
XM_017005405.2:c.49G>T	XP_016860894.1:p.Asp17Tyr
NM_014748.4:c.691G>T MANE Select	NP_055563.1:p.Asp231Tyr
NM_001267059.2:c.655G>T	NP_001253988.1:p.Asp219Tyr
NM_001267061.2:c.631G>T	NP_001253990.1:p.Asp211Tyr
NR_049782.2:n.944G>T
NR_049783.2:n.917G>T
NR_049784.2:n.893G>T
NR_049785.2:n.826G>T
NR_049786.2:n.775G>T
NR_049787.2:n.626G>T
NR_049788.2:n.556G>T
NM_001267060.2:c.616G>T	NP_001253989.1:p.Asp206Tyr