Canonical Allele Identifier: CA346210121

Gene: SNX17

Linked Data

• gnomAD v4: 2-27375549-G-C
• MyVariant Identifiers: chr2:g.27598416G>C (hg19) ; chr2:g.27375549G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375549G>C , CM000664.2:g.27375549G>C	GRCh38
NC_000002.11:g.27598416G>C , CM000664.1:g.27598416G>C	GRCh37
NC_000002.10:g.27451920G>C	NCBI36
NG_028219.1:g.10196C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.818G>C MANE Select	ENSP00000233575.2:p.Arg273Pro
ENST00000233575.6:c.818G>C	ENSP00000233575.2:p.Arg273Pro
ENST00000427123.5:c.*628G>C	ENSP00000405399.1:n.*628G>C
ENST00000440760.5:c.*663G>C	ENSP00000399727.1:n.*663G>C
ENST00000453453.1:c.*345G>C	ENSP00000401922.1:n.*345G>C
ENST00000493711.1:n.535G>C
ENST00000537606.5:c.743G>C	ENSP00000439208.1:p.Arg248Pro
NM_001267059.1:c.782G>C	NP_001253988.1:p.Arg261Pro
NM_001267060.1:c.743G>C	NP_001253989.1:p.Arg248Pro
NM_001267061.1:c.758G>C	NP_001253990.1:p.Arg253Pro
NM_014748.3:c.818G>C	NP_055563.1:p.Arg273Pro
NR_049782.1:n.1191G>C
NR_049783.1:n.1164G>C
NR_049784.1:n.1140G>C
NR_049785.1:n.1073G>C
NR_049786.1:n.1022G>C
NR_049787.1:n.873G>C
NR_049788.1:n.803G>C
XM_011533203.1:c.176G>C	XP_011531505.1:p.Arg59Pro
XM_011533203.2:c.176G>C	XP_011531505.1:p.Arg59Pro
XM_017005405.2:c.176G>C	XP_016860894.1:p.Arg59Pro
NM_014748.4:c.818G>C MANE Select	NP_055563.1:p.Arg273Pro
NM_001267059.2:c.782G>C	NP_001253988.1:p.Arg261Pro
NM_001267061.2:c.758G>C	NP_001253990.1:p.Arg253Pro
NR_049782.2:n.1071G>C
NR_049783.2:n.1044G>C
NR_049784.2:n.1020G>C
NR_049785.2:n.953G>C
NR_049786.2:n.902G>C
NR_049787.2:n.753G>C
NR_049788.2:n.683G>C
NM_001267060.2:c.743G>C	NP_001253989.1:p.Arg248Pro