Canonical Allele Identifier: CA44524099

Gene: SNX17

Linked Data

• dbSNP Id: rs529352425
• gnomAD v2: 2-27597931-G-A
• gnomAD v4: 2-27375064-G-A
• MyVariant Identifiers: chr2:g.27597931G>A (hg19) ; chr2:g.27375064G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375064G>A , CM000664.2:g.27375064G>A	GRCh38
NC_000002.11:g.27597931G>A , CM000664.1:g.27597931G>A	GRCh37
NC_000002.10:g.27451435G>A	NCBI36
NG_009305.1:g.394C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.685G>A MANE Select	ENSP00000233575.2:p.Val229Ile
ENST00000233575.6:c.685G>A	ENSP00000233575.2:p.Val229Ile
ENST00000427123.5:c.*495G>A	ENSP00000405399.1:n.*495G>A
ENST00000440760.5:c.*530G>A	ENSP00000399727.1:n.*530G>A
ENST00000453453.1:c.*212G>A	ENSP00000401922.1:n.*212G>A
ENST00000493711.1:n.402G>A
ENST00000494893.5:n.861G>A
ENST00000537606.5:c.610G>A	ENSP00000439208.1:p.Val204Ile
NM_001267059.1:c.649G>A	NP_001253988.1:p.Val217Ile
NM_001267060.1:c.610G>A	NP_001253989.1:p.Val204Ile
NM_001267061.1:c.625G>A	NP_001253990.1:p.Val209Ile
NM_014748.3:c.685G>A	NP_055563.1:p.Val229Ile
NR_049782.1:n.1058G>A
NR_049783.1:n.1031G>A
NR_049784.1:n.1007G>A
NR_049785.1:n.940G>A
NR_049786.1:n.889G>A
NR_049787.1:n.740G>A
NR_049788.1:n.670G>A
XM_011533203.1:c.43G>A	XP_011531505.1:p.Val15Ile
XM_011533203.2:c.43G>A	XP_011531505.1:p.Val15Ile
XM_017005405.2:c.43G>A	XP_016860894.1:p.Val15Ile
NM_014748.4:c.685G>A MANE Select	NP_055563.1:p.Val229Ile
NM_001267059.2:c.649G>A	NP_001253988.1:p.Val217Ile
NM_001267061.2:c.625G>A	NP_001253990.1:p.Val209Ile
NR_049782.2:n.938G>A
NR_049783.2:n.911G>A
NR_049784.2:n.887G>A
NR_049785.2:n.820G>A
NR_049786.2:n.769G>A
NR_049787.2:n.620G>A
NR_049788.2:n.550G>A
NM_001267060.2:c.610G>A	NP_001253989.1:p.Val204Ile