Canonical Allele Identifier: CA346210116

Gene: SNX17

Linked Data

• dbSNP Id: rs199872271
• MyVariant Identifiers: chr2:g.27598415C>G (hg19) ; chr2:g.27375548C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375548C>G , CM000664.2:g.27375548C>G	GRCh38
NC_000002.11:g.27598415C>G , CM000664.1:g.27598415C>G	GRCh37
NC_000002.10:g.27451919C>G	NCBI36
NG_028219.1:g.10197G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.817C>G MANE Select	ENSP00000233575.2:p.Arg273Gly
ENST00000233575.6:c.817C>G	ENSP00000233575.2:p.Arg273Gly
ENST00000427123.5:c.*627C>G	ENSP00000405399.1:n.*627C>G
ENST00000440760.5:c.*662C>G	ENSP00000399727.1:n.*662C>G
ENST00000453453.1:c.*344C>G	ENSP00000401922.1:n.*344C>G
ENST00000493711.1:n.534C>G
ENST00000537606.5:c.742C>G	ENSP00000439208.1:p.Arg248Gly
NM_001267059.1:c.781C>G	NP_001253988.1:p.Arg261Gly
NM_001267060.1:c.742C>G	NP_001253989.1:p.Arg248Gly
NM_001267061.1:c.757C>G	NP_001253990.1:p.Arg253Gly
NM_014748.3:c.817C>G	NP_055563.1:p.Arg273Gly
NR_049782.1:n.1190C>G
NR_049783.1:n.1163C>G
NR_049784.1:n.1139C>G
NR_049785.1:n.1072C>G
NR_049786.1:n.1021C>G
NR_049787.1:n.872C>G
NR_049788.1:n.802C>G
XM_011533203.1:c.175C>G	XP_011531505.1:p.Arg59Gly
XM_011533203.2:c.175C>G	XP_011531505.1:p.Arg59Gly
XM_017005405.2:c.175C>G	XP_016860894.1:p.Arg59Gly
NM_014748.4:c.817C>G MANE Select	NP_055563.1:p.Arg273Gly
NM_001267059.2:c.781C>G	NP_001253988.1:p.Arg261Gly
NM_001267061.2:c.757C>G	NP_001253990.1:p.Arg253Gly
NR_049782.2:n.1070C>G
NR_049783.2:n.1043C>G
NR_049784.2:n.1019C>G
NR_049785.2:n.952C>G
NR_049786.2:n.901C>G
NR_049787.2:n.752C>G
NR_049788.2:n.682C>G
NM_001267060.2:c.742C>G	NP_001253989.1:p.Arg248Gly