Canonical Allele Identifier: CA346209834

Gene: SNX17

Linked Data

• gnomAD v4: 2-27375148-A-G
• MyVariant Identifiers: chr2:g.27598015A>G (hg19) ; chr2:g.27375148A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375148A>G , CM000664.2:g.27375148A>G	GRCh38
NC_000002.11:g.27598015A>G , CM000664.1:g.27598015A>G	GRCh37
NC_000002.10:g.27451519A>G	NCBI36
NG_009305.1:g.310T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.769A>G MANE Select	ENSP00000233575.2:p.Lys257Glu
ENST00000233575.6:c.769A>G	ENSP00000233575.2:p.Lys257Glu
ENST00000427123.5:c.*579A>G	ENSP00000405399.1:n.*579A>G
ENST00000440760.5:c.*614A>G	ENSP00000399727.1:n.*614A>G
ENST00000453453.1:c.*296A>G	ENSP00000401922.1:n.*296A>G
ENST00000493711.1:n.486A>G
ENST00000494893.5:n.945A>G
ENST00000537606.5:c.694A>G	ENSP00000439208.1:p.Lys232Glu
NM_001267059.1:c.733A>G	NP_001253988.1:p.Lys245Glu
NM_001267060.1:c.694A>G	NP_001253989.1:p.Lys232Glu
NM_001267061.1:c.709A>G	NP_001253990.1:p.Lys237Glu
NM_014748.3:c.769A>G	NP_055563.1:p.Lys257Glu
NR_049782.1:n.1142A>G
NR_049783.1:n.1115A>G
NR_049784.1:n.1091A>G
NR_049785.1:n.1024A>G
NR_049786.1:n.973A>G
NR_049787.1:n.824A>G
NR_049788.1:n.754A>G
XM_011533203.1:c.127A>G	XP_011531505.1:p.Lys43Glu
XM_011533203.2:c.127A>G	XP_011531505.1:p.Lys43Glu
XM_017005405.2:c.127A>G	XP_016860894.1:p.Lys43Glu
NM_014748.4:c.769A>G MANE Select	NP_055563.1:p.Lys257Glu
NM_001267059.2:c.733A>G	NP_001253988.1:p.Lys245Glu
NM_001267061.2:c.709A>G	NP_001253990.1:p.Lys237Glu
NR_049782.2:n.1022A>G
NR_049783.2:n.995A>G
NR_049784.2:n.971A>G
NR_049785.2:n.904A>G
NR_049786.2:n.853A>G
NR_049787.2:n.704A>G
NR_049788.2:n.634A>G
NM_001267060.2:c.694A>G	NP_001253989.1:p.Lys232Glu