Canonical Allele Identifier: CA346209978

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598381A>C (hg19) ; chr2:g.27375514A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375514A>C , CM000664.2:g.27375514A>C	GRCh38
NC_000002.11:g.27598381A>C , CM000664.1:g.27598381A>C	GRCh37
NC_000002.10:g.27451885A>C	NCBI36
NG_028219.1:g.10231T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.783A>C MANE Select	ENSP00000233575.2:p.Arg261Ser
ENST00000233575.6:c.783A>C	ENSP00000233575.2:p.Arg261Ser
ENST00000427123.5:c.*593A>C	ENSP00000405399.1:n.*593A>C
ENST00000440760.5:c.*628A>C	ENSP00000399727.1:n.*628A>C
ENST00000453453.1:c.*310A>C	ENSP00000401922.1:n.*310A>C
ENST00000493711.1:n.500A>C
ENST00000494893.5:n.959A>C
ENST00000537606.5:c.708A>C	ENSP00000439208.1:p.Arg236Ser
NM_001267059.1:c.747A>C	NP_001253988.1:p.Arg249Ser
NM_001267060.1:c.708A>C	NP_001253989.1:p.Arg236Ser
NM_001267061.1:c.723A>C	NP_001253990.1:p.Arg241Ser
NM_014748.3:c.783A>C	NP_055563.1:p.Arg261Ser
NR_049782.1:n.1156A>C
NR_049783.1:n.1129A>C
NR_049784.1:n.1105A>C
NR_049785.1:n.1038A>C
NR_049786.1:n.987A>C
NR_049787.1:n.838A>C
NR_049788.1:n.768A>C
XM_011533203.1:c.141A>C	XP_011531505.1:p.Arg47Ser
XM_011533203.2:c.141A>C	XP_011531505.1:p.Arg47Ser
XM_017005405.2:c.141A>C	XP_016860894.1:p.Arg47Ser
NM_014748.4:c.783A>C MANE Select	NP_055563.1:p.Arg261Ser
NM_001267059.2:c.747A>C	NP_001253988.1:p.Arg249Ser
NM_001267061.2:c.723A>C	NP_001253990.1:p.Arg241Ser
NR_049782.2:n.1036A>C
NR_049783.2:n.1009A>C
NR_049784.2:n.985A>C
NR_049785.2:n.918A>C
NR_049786.2:n.867A>C
NR_049787.2:n.718A>C
NR_049788.2:n.648A>C
NM_001267060.2:c.708A>C	NP_001253989.1:p.Arg236Ser