Canonical Allele Identifier: CA346209745

Gene: SNX17

Linked Data

• gnomAD v4: 2-27375107-A-C
• MyVariant Identifiers: chr2:g.27597974A>C (hg19) ; chr2:g.27375107A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375107A>C , CM000664.2:g.27375107A>C	GRCh38
NC_000002.11:g.27597974A>C , CM000664.1:g.27597974A>C	GRCh37
NC_000002.10:g.27451478A>C	NCBI36
NG_009305.1:g.351T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.728A>C MANE Select	ENSP00000233575.2:p.Gln243Pro
ENST00000233575.6:c.728A>C	ENSP00000233575.2:p.Gln243Pro
ENST00000427123.5:c.*538A>C	ENSP00000405399.1:n.*538A>C
ENST00000440760.5:c.*573A>C	ENSP00000399727.1:n.*573A>C
ENST00000453453.1:c.*255A>C	ENSP00000401922.1:n.*255A>C
ENST00000493711.1:n.445A>C
ENST00000494893.5:n.904A>C
ENST00000537606.5:c.653A>C	ENSP00000439208.1:p.Gln218Pro
NM_001267059.1:c.692A>C	NP_001253988.1:p.Gln231Pro
NM_001267060.1:c.653A>C	NP_001253989.1:p.Gln218Pro
NM_001267061.1:c.668A>C	NP_001253990.1:p.Gln223Pro
NM_014748.3:c.728A>C	NP_055563.1:p.Gln243Pro
NR_049782.1:n.1101A>C
NR_049783.1:n.1074A>C
NR_049784.1:n.1050A>C
NR_049785.1:n.983A>C
NR_049786.1:n.932A>C
NR_049787.1:n.783A>C
NR_049788.1:n.713A>C
XM_011533203.1:c.86A>C	XP_011531505.1:p.Gln29Pro
XM_011533203.2:c.86A>C	XP_011531505.1:p.Gln29Pro
XM_017005405.2:c.86A>C	XP_016860894.1:p.Gln29Pro
NM_014748.4:c.728A>C MANE Select	NP_055563.1:p.Gln243Pro
NM_001267059.2:c.692A>C	NP_001253988.1:p.Gln231Pro
NM_001267061.2:c.668A>C	NP_001253990.1:p.Gln223Pro
NR_049782.2:n.981A>C
NR_049783.2:n.954A>C
NR_049784.2:n.930A>C
NR_049785.2:n.863A>C
NR_049786.2:n.812A>C
NR_049787.2:n.663A>C
NR_049788.2:n.593A>C
NM_001267060.2:c.653A>C	NP_001253989.1:p.Gln218Pro