Canonical Allele Identifier: CA346209990

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598383T>G (hg19) ; chr2:g.27375516T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375516T>G , CM000664.2:g.27375516T>G	GRCh38
NC_000002.11:g.27598383T>G , CM000664.1:g.27598383T>G	GRCh37
NC_000002.10:g.27451887T>G	NCBI36
NG_028219.1:g.10229A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.785T>G MANE Select	ENSP00000233575.2:p.Leu262Arg
ENST00000233575.6:c.785T>G	ENSP00000233575.2:p.Leu262Arg
ENST00000427123.5:c.*595T>G	ENSP00000405399.1:n.*595T>G
ENST00000440760.5:c.*630T>G	ENSP00000399727.1:n.*630T>G
ENST00000453453.1:c.*312T>G	ENSP00000401922.1:n.*312T>G
ENST00000493711.1:n.502T>G
ENST00000494893.5:n.961T>G
ENST00000537606.5:c.710T>G	ENSP00000439208.1:p.Leu237Arg
NM_001267059.1:c.749T>G	NP_001253988.1:p.Leu250Arg
NM_001267060.1:c.710T>G	NP_001253989.1:p.Leu237Arg
NM_001267061.1:c.725T>G	NP_001253990.1:p.Leu242Arg
NM_014748.3:c.785T>G	NP_055563.1:p.Leu262Arg
NR_049782.1:n.1158T>G
NR_049783.1:n.1131T>G
NR_049784.1:n.1107T>G
NR_049785.1:n.1040T>G
NR_049786.1:n.989T>G
NR_049787.1:n.840T>G
NR_049788.1:n.770T>G
XM_011533203.1:c.143T>G	XP_011531505.1:p.Leu48Arg
XM_011533203.2:c.143T>G	XP_011531505.1:p.Leu48Arg
XM_017005405.2:c.143T>G	XP_016860894.1:p.Leu48Arg
NM_014748.4:c.785T>G MANE Select	NP_055563.1:p.Leu262Arg
NM_001267059.2:c.749T>G	NP_001253988.1:p.Leu250Arg
NM_001267061.2:c.725T>G	NP_001253990.1:p.Leu242Arg
NR_049782.2:n.1038T>G
NR_049783.2:n.1011T>G
NR_049784.2:n.987T>G
NR_049785.2:n.920T>G
NR_049786.2:n.869T>G
NR_049787.2:n.720T>G
NR_049788.2:n.650T>G
NM_001267060.2:c.710T>G	NP_001253989.1:p.Leu237Arg