Canonical Allele Identifier: CA1577436

Gene: SNX17

Linked Data

• ClinVar Variation Id: 2303371
• ClinVar RCV Id: RCV004154671
• dbSNP Id: rs199872271
• ExAC: 2:27598415 C / T
• gnomAD v2: 2-27598415-C-T
• gnomAD v3: 2-27375548-C-T
• gnomAD v4: 2-27375548-C-T
• MyVariant Identifiers: chr2:g.27598415C>T (hg19) ; chr2:g.27375548C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.817C>T MANE Select	ENSP00000233575.2:p.Arg273Cys
ENST00000233575.6:c.817C>T	ENSP00000233575.2:p.Arg273Cys
ENST00000427123.5:c.*627C>T	ENSP00000405399.1:n.*627C>T
ENST00000440760.5:c.*662C>T	ENSP00000399727.1:n.*662C>T
ENST00000453453.1:c.*344C>T	ENSP00000401922.1:n.*344C>T
ENST00000493711.1:n.534C>T
ENST00000537606.5:c.742C>T	ENSP00000439208.1:p.Arg248Cys
NM_001267059.1:c.781C>T	NP_001253988.1:p.Arg261Cys
NM_001267060.1:c.742C>T	NP_001253989.1:p.Arg248Cys
NM_001267061.1:c.757C>T	NP_001253990.1:p.Arg253Cys
NM_014748.3:c.817C>T	NP_055563.1:p.Arg273Cys
NR_049782.1:n.1190C>T
NR_049783.1:n.1163C>T
NR_049784.1:n.1139C>T
NR_049785.1:n.1072C>T
NR_049786.1:n.1021C>T
NR_049787.1:n.872C>T
NR_049788.1:n.802C>T
XM_011533203.1:c.175C>T	XP_011531505.1:p.Arg59Cys
XM_011533203.2:c.175C>T	XP_011531505.1:p.Arg59Cys
XM_017005405.2:c.175C>T	XP_016860894.1:p.Arg59Cys
NM_014748.4:c.817C>T MANE Select	NP_055563.1:p.Arg273Cys
NM_001267059.2:c.781C>T	NP_001253988.1:p.Arg261Cys
NM_001267061.2:c.757C>T	NP_001253990.1:p.Arg253Cys
NR_049782.2:n.1070C>T
NR_049783.2:n.1043C>T
NR_049784.2:n.1019C>T
NR_049785.2:n.952C>T
NR_049786.2:n.901C>T
NR_049787.2:n.752C>T
NR_049788.2:n.682C>T
NM_001267060.2:c.742C>T	NP_001253989.1:p.Arg248Cys