Canonical Allele Identifier: CA346209759

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597980G>T (hg19) ; chr2:g.27375113G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375113G>T , CM000664.2:g.27375113G>T	GRCh38
NC_000002.11:g.27597980G>T , CM000664.1:g.27597980G>T	GRCh37
NC_000002.10:g.27451484G>T	NCBI36
NG_009305.1:g.345C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.734G>T MANE Select	ENSP00000233575.2:p.Arg245Leu
ENST00000233575.6:c.734G>T	ENSP00000233575.2:p.Arg245Leu
ENST00000427123.5:c.*544G>T	ENSP00000405399.1:n.*544G>T
ENST00000440760.5:c.*579G>T	ENSP00000399727.1:n.*579G>T
ENST00000453453.1:c.*261G>T	ENSP00000401922.1:n.*261G>T
ENST00000493711.1:n.451G>T
ENST00000494893.5:n.910G>T
ENST00000537606.5:c.659G>T	ENSP00000439208.1:p.Arg220Leu
NM_001267059.1:c.698G>T	NP_001253988.1:p.Arg233Leu
NM_001267060.1:c.659G>T	NP_001253989.1:p.Arg220Leu
NM_001267061.1:c.674G>T	NP_001253990.1:p.Arg225Leu
NM_014748.3:c.734G>T	NP_055563.1:p.Arg245Leu
NR_049782.1:n.1107G>T
NR_049783.1:n.1080G>T
NR_049784.1:n.1056G>T
NR_049785.1:n.989G>T
NR_049786.1:n.938G>T
NR_049787.1:n.789G>T
NR_049788.1:n.719G>T
XM_011533203.1:c.92G>T	XP_011531505.1:p.Arg31Leu
XM_011533203.2:c.92G>T	XP_011531505.1:p.Arg31Leu
XM_017005405.2:c.92G>T	XP_016860894.1:p.Arg31Leu
NM_014748.4:c.734G>T MANE Select	NP_055563.1:p.Arg245Leu
NM_001267059.2:c.698G>T	NP_001253988.1:p.Arg233Leu
NM_001267061.2:c.674G>T	NP_001253990.1:p.Arg225Leu
NR_049782.2:n.987G>T
NR_049783.2:n.960G>T
NR_049784.2:n.936G>T
NR_049785.2:n.869G>T
NR_049786.2:n.818G>T
NR_049787.2:n.669G>T
NR_049788.2:n.599G>T
NM_001267060.2:c.659G>T	NP_001253989.1:p.Arg220Leu