Canonical Allele Identifier: CA346210016

Gene: SNX17

Linked Data

• gnomAD v4: 2-27375523-G-T
• MyVariant Identifiers: chr2:g.27598390G>T (hg19) ; chr2:g.27375523G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375523G>T , CM000664.2:g.27375523G>T	GRCh38
NC_000002.11:g.27598390G>T , CM000664.1:g.27598390G>T	GRCh37
NC_000002.10:g.27451894G>T	NCBI36
NG_028219.1:g.10222C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.792G>T MANE Select	ENSP00000233575.2:p.Gln264His
ENST00000233575.6:c.792G>T	ENSP00000233575.2:p.Gln264His
ENST00000427123.5:c.*602G>T	ENSP00000405399.1:n.*602G>T
ENST00000440760.5:c.*637G>T	ENSP00000399727.1:n.*637G>T
ENST00000453453.1:c.*319G>T	ENSP00000401922.1:n.*319G>T
ENST00000493711.1:n.509G>T
ENST00000537606.5:c.717G>T	ENSP00000439208.1:p.Gln239His
NM_001267059.1:c.756G>T	NP_001253988.1:p.Gln252His
NM_001267060.1:c.717G>T	NP_001253989.1:p.Gln239His
NM_001267061.1:c.732G>T	NP_001253990.1:p.Gln244His
NM_014748.3:c.792G>T	NP_055563.1:p.Gln264His
NR_049782.1:n.1165G>T
NR_049783.1:n.1138G>T
NR_049784.1:n.1114G>T
NR_049785.1:n.1047G>T
NR_049786.1:n.996G>T
NR_049787.1:n.847G>T
NR_049788.1:n.777G>T
XM_011533203.1:c.150G>T	XP_011531505.1:p.Gln50His
XM_011533203.2:c.150G>T	XP_011531505.1:p.Gln50His
XM_017005405.2:c.150G>T	XP_016860894.1:p.Gln50His
NM_014748.4:c.792G>T MANE Select	NP_055563.1:p.Gln264His
NM_001267059.2:c.756G>T	NP_001253988.1:p.Gln252His
NM_001267061.2:c.732G>T	NP_001253990.1:p.Gln244His
NR_049782.2:n.1045G>T
NR_049783.2:n.1018G>T
NR_049784.2:n.994G>T
NR_049785.2:n.927G>T
NR_049786.2:n.876G>T
NR_049787.2:n.727G>T
NR_049788.2:n.657G>T
NM_001267060.2:c.717G>T	NP_001253989.1:p.Gln239His