Canonical Allele Identifier: CA346210113

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598415C>A (hg19) ; chr2:g.27375548C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.817C>A MANE Select	ENSP00000233575.2:p.Arg273Ser
ENST00000233575.6:c.817C>A	ENSP00000233575.2:p.Arg273Ser
ENST00000427123.5:c.*627C>A	ENSP00000405399.1:n.*627C>A
ENST00000440760.5:c.*662C>A	ENSP00000399727.1:n.*662C>A
ENST00000453453.1:c.*344C>A	ENSP00000401922.1:n.*344C>A
ENST00000493711.1:n.534C>A
ENST00000537606.5:c.742C>A	ENSP00000439208.1:p.Arg248Ser
NM_001267059.1:c.781C>A	NP_001253988.1:p.Arg261Ser
NM_001267060.1:c.742C>A	NP_001253989.1:p.Arg248Ser
NM_001267061.1:c.757C>A	NP_001253990.1:p.Arg253Ser
NM_014748.3:c.817C>A	NP_055563.1:p.Arg273Ser
NR_049782.1:n.1190C>A
NR_049783.1:n.1163C>A
NR_049784.1:n.1139C>A
NR_049785.1:n.1072C>A
NR_049786.1:n.1021C>A
NR_049787.1:n.872C>A
NR_049788.1:n.802C>A
XM_011533203.1:c.175C>A	XP_011531505.1:p.Arg59Ser
XM_011533203.2:c.175C>A	XP_011531505.1:p.Arg59Ser
XM_017005405.2:c.175C>A	XP_016860894.1:p.Arg59Ser
NM_014748.4:c.817C>A MANE Select	NP_055563.1:p.Arg273Ser
NM_001267059.2:c.781C>A	NP_001253988.1:p.Arg261Ser
NM_001267061.2:c.757C>A	NP_001253990.1:p.Arg253Ser
NR_049782.2:n.1070C>A
NR_049783.2:n.1043C>A
NR_049784.2:n.1019C>A
NR_049785.2:n.952C>A
NR_049786.2:n.901C>A
NR_049787.2:n.752C>A
NR_049788.2:n.682C>A
NM_001267060.2:c.742C>A	NP_001253989.1:p.Arg248Ser