Canonical Allele Identifier: CA44524175

Gene: SNX17

Linked Data

• dbSNP Id: rs372701524
• gnomAD v2: 2-27597980-G-A
• gnomAD v4: 2-27375113-G-A
• MyVariant Identifiers: chr2:g.27597980G>A (hg19) ; chr2:g.27375113G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375113G>A , CM000664.2:g.27375113G>A	GRCh38
NC_000002.11:g.27597980G>A , CM000664.1:g.27597980G>A	GRCh37
NC_000002.10:g.27451484G>A	NCBI36
NG_009305.1:g.345C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.734G>A MANE Select	ENSP00000233575.2:p.Arg245Gln
ENST00000233575.6:c.734G>A	ENSP00000233575.2:p.Arg245Gln
ENST00000427123.5:c.*544G>A	ENSP00000405399.1:n.*544G>A
ENST00000440760.5:c.*579G>A	ENSP00000399727.1:n.*579G>A
ENST00000453453.1:c.*261G>A	ENSP00000401922.1:n.*261G>A
ENST00000493711.1:n.451G>A
ENST00000494893.5:n.910G>A
ENST00000537606.5:c.659G>A	ENSP00000439208.1:p.Arg220Gln
NM_001267059.1:c.698G>A	NP_001253988.1:p.Arg233Gln
NM_001267060.1:c.659G>A	NP_001253989.1:p.Arg220Gln
NM_001267061.1:c.674G>A	NP_001253990.1:p.Arg225Gln
NM_014748.3:c.734G>A	NP_055563.1:p.Arg245Gln
NR_049782.1:n.1107G>A
NR_049783.1:n.1080G>A
NR_049784.1:n.1056G>A
NR_049785.1:n.989G>A
NR_049786.1:n.938G>A
NR_049787.1:n.789G>A
NR_049788.1:n.719G>A
XM_011533203.1:c.92G>A	XP_011531505.1:p.Arg31Gln
XM_011533203.2:c.92G>A	XP_011531505.1:p.Arg31Gln
XM_017005405.2:c.92G>A	XP_016860894.1:p.Arg31Gln
NM_014748.4:c.734G>A MANE Select	NP_055563.1:p.Arg245Gln
NM_001267059.2:c.698G>A	NP_001253988.1:p.Arg233Gln
NM_001267061.2:c.674G>A	NP_001253990.1:p.Arg225Gln
NR_049782.2:n.987G>A
NR_049783.2:n.960G>A
NR_049784.2:n.936G>A
NR_049785.2:n.869G>A
NR_049786.2:n.818G>A
NR_049787.2:n.669G>A
NR_049788.2:n.599G>A
NM_001267060.2:c.659G>A	NP_001253989.1:p.Arg220Gln