Canonical Allele Identifier: CA346209652

Gene: SNX17

Linked Data

• dbSNP Id: rs1350040005
• gnomAD v2: 2-27597929-C-T
• gnomAD v4: 2-27375062-C-T
• MyVariant Identifiers: chr2:g.27597929C>T (hg19) ; chr2:g.27375062C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375062C>T , CM000664.2:g.27375062C>T	GRCh38
NC_000002.11:g.27597929C>T , CM000664.1:g.27597929C>T	GRCh37
NC_000002.10:g.27451433C>T	NCBI36
NG_009305.1:g.396G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.683C>T MANE Select	ENSP00000233575.2:p.Thr228Met
ENST00000233575.6:c.683C>T	ENSP00000233575.2:p.Thr228Met
ENST00000427123.5:c.*493C>T	ENSP00000405399.1:n.*493C>T
ENST00000440760.5:c.*528C>T	ENSP00000399727.1:n.*528C>T
ENST00000453453.1:c.*210C>T	ENSP00000401922.1:n.*210C>T
ENST00000493711.1:n.400C>T
ENST00000494893.5:n.859C>T
ENST00000537606.5:c.608C>T	ENSP00000439208.1:p.Thr203Met
NM_001267059.1:c.647C>T	NP_001253988.1:p.Thr216Met
NM_001267060.1:c.608C>T	NP_001253989.1:p.Thr203Met
NM_001267061.1:c.623C>T	NP_001253990.1:p.Thr208Met
NM_014748.3:c.683C>T	NP_055563.1:p.Thr228Met
NR_049782.1:n.1056C>T
NR_049783.1:n.1029C>T
NR_049784.1:n.1005C>T
NR_049785.1:n.938C>T
NR_049786.1:n.887C>T
NR_049787.1:n.738C>T
NR_049788.1:n.668C>T
XM_011533203.1:c.41C>T	XP_011531505.1:p.Thr14Met
XM_011533203.2:c.41C>T	XP_011531505.1:p.Thr14Met
XM_017005405.2:c.41C>T	XP_016860894.1:p.Thr14Met
NM_014748.4:c.683C>T MANE Select	NP_055563.1:p.Thr228Met
NM_001267059.2:c.647C>T	NP_001253988.1:p.Thr216Met
NM_001267061.2:c.623C>T	NP_001253990.1:p.Thr208Met
NR_049782.2:n.936C>T
NR_049783.2:n.909C>T
NR_049784.2:n.885C>T
NR_049785.2:n.818C>T
NR_049786.2:n.767C>T
NR_049787.2:n.618C>T
NR_049788.2:n.548C>T
NM_001267060.2:c.608C>T	NP_001253989.1:p.Thr203Met