Canonical Allele Identifier: CA425415782

Gene: SNX17

Linked Data

• gnomAD v4: 2-27375108-G-A
• MyVariant Identifiers: chr2:g.27597975G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375108G>A , CM000664.2:g.27375108G>A	GRCh38
NC_000002.11:g.27597975G>A , CM000664.1:g.27597975G>A	GRCh37
NC_000002.10:g.27451479G>A	NCBI36
NG_009305.1:g.350C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.729G>A MANE Select	ENSP00000233575.2:p.Gln243=
ENST00000233575.6:c.729G>A	ENSP00000233575.2:p.Gln243=
ENST00000427123.5:c.*539G>A	ENSP00000405399.1:n.*539G>A
ENST00000440760.5:c.*574G>A	ENSP00000399727.1:n.*574G>A
ENST00000453453.1:c.*256G>A	ENSP00000401922.1:n.*256G>A
ENST00000493711.1:n.446G>A
ENST00000494893.5:n.905G>A
ENST00000537606.5:c.654G>A	ENSP00000439208.1:p.Gln218=
NM_001267059.1:c.693G>A	NP_001253988.1:p.Gln231=
NM_001267060.1:c.654G>A	NP_001253989.1:p.Gln218=
NM_001267061.1:c.669G>A	NP_001253990.1:p.Gln223=
NM_014748.3:c.729G>A	NP_055563.1:p.Gln243=
NR_049782.1:n.1102G>A
NR_049783.1:n.1075G>A
NR_049784.1:n.1051G>A
NR_049785.1:n.984G>A
NR_049786.1:n.933G>A
NR_049787.1:n.784G>A
NR_049788.1:n.714G>A
XM_011533203.1:c.87G>A	XP_011531505.1:p.Gln29=
XM_011533203.2:c.87G>A	XP_011531505.1:p.Gln29=
XM_017005405.2:c.87G>A	XP_016860894.1:p.Gln29=
NM_014748.4:c.729G>A MANE Select	NP_055563.1:p.Gln243=
NM_001267059.2:c.693G>A	NP_001253988.1:p.Gln231=
NM_001267061.2:c.669G>A	NP_001253990.1:p.Gln223=
NR_049782.2:n.982G>A
NR_049783.2:n.955G>A
NR_049784.2:n.931G>A
NR_049785.2:n.864G>A
NR_049786.2:n.813G>A
NR_049787.2:n.664G>A
NR_049788.2:n.594G>A
NM_001267060.2:c.654G>A	NP_001253989.1:p.Gln218=