Canonical Allele Identifier: CA346209809

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598003A>G (hg19) ; chr2:g.27375136A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375136A>G , CM000664.2:g.27375136A>G	GRCh38
NC_000002.11:g.27598003A>G , CM000664.1:g.27598003A>G	GRCh37
NC_000002.10:g.27451507A>G	NCBI36
NG_009305.1:g.322T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.757A>G MANE Select	ENSP00000233575.2:p.Lys253Glu
ENST00000233575.6:c.757A>G	ENSP00000233575.2:p.Lys253Glu
ENST00000427123.5:c.*567A>G	ENSP00000405399.1:n.*567A>G
ENST00000440760.5:c.*602A>G	ENSP00000399727.1:n.*602A>G
ENST00000453453.1:c.*284A>G	ENSP00000401922.1:n.*284A>G
ENST00000493711.1:n.474A>G
ENST00000494893.5:n.933A>G
ENST00000537606.5:c.682A>G	ENSP00000439208.1:p.Lys228Glu
NM_001267059.1:c.721A>G	NP_001253988.1:p.Lys241Glu
NM_001267060.1:c.682A>G	NP_001253989.1:p.Lys228Glu
NM_001267061.1:c.697A>G	NP_001253990.1:p.Lys233Glu
NM_014748.3:c.757A>G	NP_055563.1:p.Lys253Glu
NR_049782.1:n.1130A>G
NR_049783.1:n.1103A>G
NR_049784.1:n.1079A>G
NR_049785.1:n.1012A>G
NR_049786.1:n.961A>G
NR_049787.1:n.812A>G
NR_049788.1:n.742A>G
XM_011533203.1:c.115A>G	XP_011531505.1:p.Lys39Glu
XM_011533203.2:c.115A>G	XP_011531505.1:p.Lys39Glu
XM_017005405.2:c.115A>G	XP_016860894.1:p.Lys39Glu
NM_014748.4:c.757A>G MANE Select	NP_055563.1:p.Lys253Glu
NM_001267059.2:c.721A>G	NP_001253988.1:p.Lys241Glu
NM_001267061.2:c.697A>G	NP_001253990.1:p.Lys233Glu
NR_049782.2:n.1010A>G
NR_049783.2:n.983A>G
NR_049784.2:n.959A>G
NR_049785.2:n.892A>G
NR_049786.2:n.841A>G
NR_049787.2:n.692A>G
NR_049788.2:n.622A>G
NM_001267060.2:c.682A>G	NP_001253989.1:p.Lys228Glu