Canonical Allele Identifier: CA346210007

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598388C>A (hg19) ; chr2:g.27375521C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375521C>A , CM000664.2:g.27375521C>A	GRCh38
NC_000002.11:g.27598388C>A , CM000664.1:g.27598388C>A	GRCh37
NC_000002.10:g.27451892C>A	NCBI36
NG_028219.1:g.10224G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.790C>A MANE Select	ENSP00000233575.2:p.Gln264Lys
ENST00000233575.6:c.790C>A	ENSP00000233575.2:p.Gln264Lys
ENST00000427123.5:c.*600C>A	ENSP00000405399.1:n.*600C>A
ENST00000440760.5:c.*635C>A	ENSP00000399727.1:n.*635C>A
ENST00000453453.1:c.*317C>A	ENSP00000401922.1:n.*317C>A
ENST00000493711.1:n.507C>A
ENST00000494893.5:n.966C>A
ENST00000537606.5:c.715C>A	ENSP00000439208.1:p.Gln239Lys
NM_001267059.1:c.754C>A	NP_001253988.1:p.Gln252Lys
NM_001267060.1:c.715C>A	NP_001253989.1:p.Gln239Lys
NM_001267061.1:c.730C>A	NP_001253990.1:p.Gln244Lys
NM_014748.3:c.790C>A	NP_055563.1:p.Gln264Lys
NR_049782.1:n.1163C>A
NR_049783.1:n.1136C>A
NR_049784.1:n.1112C>A
NR_049785.1:n.1045C>A
NR_049786.1:n.994C>A
NR_049787.1:n.845C>A
NR_049788.1:n.775C>A
XM_011533203.1:c.148C>A	XP_011531505.1:p.Gln50Lys
XM_011533203.2:c.148C>A	XP_011531505.1:p.Gln50Lys
XM_017005405.2:c.148C>A	XP_016860894.1:p.Gln50Lys
NM_014748.4:c.790C>A MANE Select	NP_055563.1:p.Gln264Lys
NM_001267059.2:c.754C>A	NP_001253988.1:p.Gln252Lys
NM_001267061.2:c.730C>A	NP_001253990.1:p.Gln244Lys
NR_049782.2:n.1043C>A
NR_049783.2:n.1016C>A
NR_049784.2:n.992C>A
NR_049785.2:n.925C>A
NR_049786.2:n.874C>A
NR_049787.2:n.725C>A
NR_049788.2:n.655C>A
NM_001267060.2:c.715C>A	NP_001253989.1:p.Gln239Lys