Canonical Allele Identifier: CA425415764

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597963C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375096C>G , CM000664.2:g.27375096C>G	GRCh38
NC_000002.11:g.27597963C>G , CM000664.1:g.27597963C>G	GRCh37
NC_000002.10:g.27451467C>G	NCBI36
NG_009305.1:g.362G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.717C>G MANE Select	ENSP00000233575.2:p.Val239=
ENST00000233575.6:c.717C>G	ENSP00000233575.2:p.Val239=
ENST00000427123.5:c.*527C>G	ENSP00000405399.1:n.*527C>G
ENST00000440760.5:c.*562C>G	ENSP00000399727.1:n.*562C>G
ENST00000453453.1:c.*244C>G	ENSP00000401922.1:n.*244C>G
ENST00000493711.1:n.434C>G
ENST00000494893.5:n.893C>G
ENST00000537606.5:c.642C>G	ENSP00000439208.1:p.Val214=
NM_001267059.1:c.681C>G	NP_001253988.1:p.Val227=
NM_001267060.1:c.642C>G	NP_001253989.1:p.Val214=
NM_001267061.1:c.657C>G	NP_001253990.1:p.Val219=
NM_014748.3:c.717C>G	NP_055563.1:p.Val239=
NR_049782.1:n.1090C>G
NR_049783.1:n.1063C>G
NR_049784.1:n.1039C>G
NR_049785.1:n.972C>G
NR_049786.1:n.921C>G
NR_049787.1:n.772C>G
NR_049788.1:n.702C>G
XM_011533203.1:c.75C>G	XP_011531505.1:p.Val25=
XM_011533203.2:c.75C>G	XP_011531505.1:p.Val25=
XM_017005405.2:c.75C>G	XP_016860894.1:p.Val25=
NM_014748.4:c.717C>G MANE Select	NP_055563.1:p.Val239=
NM_001267059.2:c.681C>G	NP_001253988.1:p.Val227=
NM_001267061.2:c.657C>G	NP_001253990.1:p.Val219=
NR_049782.2:n.970C>G
NR_049783.2:n.943C>G
NR_049784.2:n.919C>G
NR_049785.2:n.852C>G
NR_049786.2:n.801C>G
NR_049787.2:n.652C>G
NR_049788.2:n.582C>G
NM_001267060.2:c.642C>G	NP_001253989.1:p.Val214=