Canonical Allele Identifier: CA346209792

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597997C>A (hg19) ; chr2:g.27375130C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375130C>A , CM000664.2:g.27375130C>A	GRCh38
NC_000002.11:g.27597997C>A , CM000664.1:g.27597997C>A	GRCh37
NC_000002.10:g.27451501C>A	NCBI36
NG_009305.1:g.328G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.751C>A MANE Select	ENSP00000233575.2:p.Gln251Lys
ENST00000233575.6:c.751C>A	ENSP00000233575.2:p.Gln251Lys
ENST00000427123.5:c.*561C>A	ENSP00000405399.1:n.*561C>A
ENST00000440760.5:c.*596C>A	ENSP00000399727.1:n.*596C>A
ENST00000453453.1:c.*278C>A	ENSP00000401922.1:n.*278C>A
ENST00000493711.1:n.468C>A
ENST00000494893.5:n.927C>A
ENST00000537606.5:c.676C>A	ENSP00000439208.1:p.Gln226Lys
NM_001267059.1:c.715C>A	NP_001253988.1:p.Gln239Lys
NM_001267060.1:c.676C>A	NP_001253989.1:p.Gln226Lys
NM_001267061.1:c.691C>A	NP_001253990.1:p.Gln231Lys
NM_014748.3:c.751C>A	NP_055563.1:p.Gln251Lys
NR_049782.1:n.1124C>A
NR_049783.1:n.1097C>A
NR_049784.1:n.1073C>A
NR_049785.1:n.1006C>A
NR_049786.1:n.955C>A
NR_049787.1:n.806C>A
NR_049788.1:n.736C>A
XM_011533203.1:c.109C>A	XP_011531505.1:p.Gln37Lys
XM_011533203.2:c.109C>A	XP_011531505.1:p.Gln37Lys
XM_017005405.2:c.109C>A	XP_016860894.1:p.Gln37Lys
NM_014748.4:c.751C>A MANE Select	NP_055563.1:p.Gln251Lys
NM_001267059.2:c.715C>A	NP_001253988.1:p.Gln239Lys
NM_001267061.2:c.691C>A	NP_001253990.1:p.Gln231Lys
NR_049782.2:n.1004C>A
NR_049783.2:n.977C>A
NR_049784.2:n.953C>A
NR_049785.2:n.886C>A
NR_049786.2:n.835C>A
NR_049787.2:n.686C>A
NR_049788.2:n.616C>A
NM_001267060.2:c.676C>A	NP_001253989.1:p.Gln226Lys