Canonical Allele Identifier: CA346209795

Gene: SNX17

Linked Data

• gnomAD v4: 2-27375131-A-C
• MyVariant Identifiers: chr2:g.27597998A>C (hg19) ; chr2:g.27375131A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375131A>C , CM000664.2:g.27375131A>C	GRCh38
NC_000002.11:g.27597998A>C , CM000664.1:g.27597998A>C	GRCh37
NC_000002.10:g.27451502A>C	NCBI36
NG_009305.1:g.327T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.752A>C MANE Select	ENSP00000233575.2:p.Gln251Pro
ENST00000233575.6:c.752A>C	ENSP00000233575.2:p.Gln251Pro
ENST00000427123.5:c.*562A>C	ENSP00000405399.1:n.*562A>C
ENST00000440760.5:c.*597A>C	ENSP00000399727.1:n.*597A>C
ENST00000453453.1:c.*279A>C	ENSP00000401922.1:n.*279A>C
ENST00000493711.1:n.469A>C
ENST00000494893.5:n.928A>C
ENST00000537606.5:c.677A>C	ENSP00000439208.1:p.Gln226Pro
NM_001267059.1:c.716A>C	NP_001253988.1:p.Gln239Pro
NM_001267060.1:c.677A>C	NP_001253989.1:p.Gln226Pro
NM_001267061.1:c.692A>C	NP_001253990.1:p.Gln231Pro
NM_014748.3:c.752A>C	NP_055563.1:p.Gln251Pro
NR_049782.1:n.1125A>C
NR_049783.1:n.1098A>C
NR_049784.1:n.1074A>C
NR_049785.1:n.1007A>C
NR_049786.1:n.956A>C
NR_049787.1:n.807A>C
NR_049788.1:n.737A>C
XM_011533203.1:c.110A>C	XP_011531505.1:p.Gln37Pro
XM_011533203.2:c.110A>C	XP_011531505.1:p.Gln37Pro
XM_017005405.2:c.110A>C	XP_016860894.1:p.Gln37Pro
NM_014748.4:c.752A>C MANE Select	NP_055563.1:p.Gln251Pro
NM_001267059.2:c.716A>C	NP_001253988.1:p.Gln239Pro
NM_001267061.2:c.692A>C	NP_001253990.1:p.Gln231Pro
NR_049782.2:n.1005A>C
NR_049783.2:n.978A>C
NR_049784.2:n.954A>C
NR_049785.2:n.887A>C
NR_049786.2:n.836A>C
NR_049787.2:n.687A>C
NR_049788.2:n.617A>C
NM_001267060.2:c.677A>C	NP_001253989.1:p.Gln226Pro