Canonical Allele Identifier: CA346210028

Gene: SNX17

Linked Data

• dbSNP Id: rs1683108956
• MyVariant Identifiers: chr2:g.27598394C>G (hg19) ; chr2:g.27375527C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375527C>G , CM000664.2:g.27375527C>G	GRCh38
NC_000002.11:g.27598394C>G , CM000664.1:g.27598394C>G	GRCh37
NC_000002.10:g.27451898C>G	NCBI36
NG_028219.1:g.10218G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.796C>G MANE Select	ENSP00000233575.2:p.Leu266Val
ENST00000233575.6:c.796C>G	ENSP00000233575.2:p.Leu266Val
ENST00000427123.5:c.*606C>G	ENSP00000405399.1:n.*606C>G
ENST00000440760.5:c.*641C>G	ENSP00000399727.1:n.*641C>G
ENST00000453453.1:c.*323C>G	ENSP00000401922.1:n.*323C>G
ENST00000493711.1:n.513C>G
ENST00000537606.5:c.721C>G	ENSP00000439208.1:p.Leu241Val
NM_001267059.1:c.760C>G	NP_001253988.1:p.Leu254Val
NM_001267060.1:c.721C>G	NP_001253989.1:p.Leu241Val
NM_001267061.1:c.736C>G	NP_001253990.1:p.Leu246Val
NM_014748.3:c.796C>G	NP_055563.1:p.Leu266Val
NR_049782.1:n.1169C>G
NR_049783.1:n.1142C>G
NR_049784.1:n.1118C>G
NR_049785.1:n.1051C>G
NR_049786.1:n.1000C>G
NR_049787.1:n.851C>G
NR_049788.1:n.781C>G
XM_011533203.1:c.154C>G	XP_011531505.1:p.Leu52Val
XM_011533203.2:c.154C>G	XP_011531505.1:p.Leu52Val
XM_017005405.2:c.154C>G	XP_016860894.1:p.Leu52Val
NM_014748.4:c.796C>G MANE Select	NP_055563.1:p.Leu266Val
NM_001267059.2:c.760C>G	NP_001253988.1:p.Leu254Val
NM_001267061.2:c.736C>G	NP_001253990.1:p.Leu246Val
NR_049782.2:n.1049C>G
NR_049783.2:n.1022C>G
NR_049784.2:n.998C>G
NR_049785.2:n.931C>G
NR_049786.2:n.880C>G
NR_049787.2:n.731C>G
NR_049788.2:n.661C>G
NM_001267060.2:c.721C>G	NP_001253989.1:p.Leu241Val