Canonical Allele Identifier: CA346209688

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597947G>T (hg19) ; chr2:g.27375080G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375080G>T , CM000664.2:g.27375080G>T	GRCh38
NC_000002.11:g.27597947G>T , CM000664.1:g.27597947G>T	GRCh37
NC_000002.10:g.27451451G>T	NCBI36
NG_009305.1:g.378C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.701G>T MANE Select	ENSP00000233575.2:p.Arg234Leu
ENST00000233575.6:c.701G>T	ENSP00000233575.2:p.Arg234Leu
ENST00000427123.5:c.*511G>T	ENSP00000405399.1:n.*511G>T
ENST00000440760.5:c.*546G>T	ENSP00000399727.1:n.*546G>T
ENST00000453453.1:c.*228G>T	ENSP00000401922.1:n.*228G>T
ENST00000493711.1:n.418G>T
ENST00000494893.5:n.877G>T
ENST00000537606.5:c.626G>T	ENSP00000439208.1:p.Arg209Leu
NM_001267059.1:c.665G>T	NP_001253988.1:p.Arg222Leu
NM_001267060.1:c.626G>T	NP_001253989.1:p.Arg209Leu
NM_001267061.1:c.641G>T	NP_001253990.1:p.Arg214Leu
NM_014748.3:c.701G>T	NP_055563.1:p.Arg234Leu
NR_049782.1:n.1074G>T
NR_049783.1:n.1047G>T
NR_049784.1:n.1023G>T
NR_049785.1:n.956G>T
NR_049786.1:n.905G>T
NR_049787.1:n.756G>T
NR_049788.1:n.686G>T
XM_011533203.1:c.59G>T	XP_011531505.1:p.Arg20Leu
XM_011533203.2:c.59G>T	XP_011531505.1:p.Arg20Leu
XM_017005405.2:c.59G>T	XP_016860894.1:p.Arg20Leu
NM_014748.4:c.701G>T MANE Select	NP_055563.1:p.Arg234Leu
NM_001267059.2:c.665G>T	NP_001253988.1:p.Arg222Leu
NM_001267061.2:c.641G>T	NP_001253990.1:p.Arg214Leu
NR_049782.2:n.954G>T
NR_049783.2:n.927G>T
NR_049784.2:n.903G>T
NR_049785.2:n.836G>T
NR_049786.2:n.785G>T
NR_049787.2:n.636G>T
NR_049788.2:n.566G>T
NM_001267060.2:c.626G>T	NP_001253989.1:p.Arg209Leu