Canonical Allele Identifier: CA425606793

Gene: SNX17

Linked Data

• gnomAD v4: 2-27375508-C-T
• MyVariant Identifiers: chr2:g.27598375C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375508C>T , CM000664.2:g.27375508C>T	GRCh38
NC_000002.11:g.27598375C>T , CM000664.1:g.27598375C>T	GRCh37
NC_000002.10:g.27451879C>T	NCBI36
NG_028219.1:g.10237G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.777C>T MANE Select	ENSP00000233575.2:p.Phe259=
ENST00000233575.6:c.777C>T	ENSP00000233575.2:p.Phe259=
ENST00000427123.5:c.*587C>T	ENSP00000405399.1:n.*587C>T
ENST00000440760.5:c.*622C>T	ENSP00000399727.1:n.*622C>T
ENST00000453453.1:c.*304C>T	ENSP00000401922.1:n.*304C>T
ENST00000493711.1:n.494C>T
ENST00000494893.5:n.953C>T
ENST00000537606.5:c.702C>T	ENSP00000439208.1:p.Phe234=
NM_001267059.1:c.741C>T	NP_001253988.1:p.Phe247=
NM_001267060.1:c.702C>T	NP_001253989.1:p.Phe234=
NM_001267061.1:c.717C>T	NP_001253990.1:p.Phe239=
NM_014748.3:c.777C>T	NP_055563.1:p.Phe259=
NR_049782.1:n.1150C>T
NR_049783.1:n.1123C>T
NR_049784.1:n.1099C>T
NR_049785.1:n.1032C>T
NR_049786.1:n.981C>T
NR_049787.1:n.832C>T
NR_049788.1:n.762C>T
XM_011533203.1:c.135C>T	XP_011531505.1:p.Phe45=
XM_011533203.2:c.135C>T	XP_011531505.1:p.Phe45=
XM_017005405.2:c.135C>T	XP_016860894.1:p.Phe45=
NM_014748.4:c.777C>T MANE Select	NP_055563.1:p.Phe259=
NM_001267059.2:c.741C>T	NP_001253988.1:p.Phe247=
NM_001267061.2:c.717C>T	NP_001253990.1:p.Phe239=
NR_049782.2:n.1030C>T
NR_049783.2:n.1003C>T
NR_049784.2:n.979C>T
NR_049785.2:n.912C>T
NR_049786.2:n.861C>T
NR_049787.2:n.712C>T
NR_049788.2:n.642C>T
NM_001267060.2:c.702C>T	NP_001253989.1:p.Phe234=