Canonical Allele Identifier: CA346209680

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597944A>C (hg19) ; chr2:g.27375077A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375077A>C , CM000664.2:g.27375077A>C	GRCh38
NC_000002.11:g.27597944A>C , CM000664.1:g.27597944A>C	GRCh37
NC_000002.10:g.27451448A>C	NCBI36
NG_009305.1:g.381T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.698A>C MANE Select	ENSP00000233575.2:p.Glu233Ala
ENST00000233575.6:c.698A>C	ENSP00000233575.2:p.Glu233Ala
ENST00000427123.5:c.*508A>C	ENSP00000405399.1:n.*508A>C
ENST00000440760.5:c.*543A>C	ENSP00000399727.1:n.*543A>C
ENST00000453453.1:c.*225A>C	ENSP00000401922.1:n.*225A>C
ENST00000493711.1:n.415A>C
ENST00000494893.5:n.874A>C
ENST00000537606.5:c.623A>C	ENSP00000439208.1:p.Glu208Ala
NM_001267059.1:c.662A>C	NP_001253988.1:p.Glu221Ala
NM_001267060.1:c.623A>C	NP_001253989.1:p.Glu208Ala
NM_001267061.1:c.638A>C	NP_001253990.1:p.Glu213Ala
NM_014748.3:c.698A>C	NP_055563.1:p.Glu233Ala
NR_049782.1:n.1071A>C
NR_049783.1:n.1044A>C
NR_049784.1:n.1020A>C
NR_049785.1:n.953A>C
NR_049786.1:n.902A>C
NR_049787.1:n.753A>C
NR_049788.1:n.683A>C
XM_011533203.1:c.56A>C	XP_011531505.1:p.Glu19Ala
XM_011533203.2:c.56A>C	XP_011531505.1:p.Glu19Ala
XM_017005405.2:c.56A>C	XP_016860894.1:p.Glu19Ala
NM_014748.4:c.698A>C MANE Select	NP_055563.1:p.Glu233Ala
NM_001267059.2:c.662A>C	NP_001253988.1:p.Glu221Ala
NM_001267061.2:c.638A>C	NP_001253990.1:p.Glu213Ala
NR_049782.2:n.951A>C
NR_049783.2:n.924A>C
NR_049784.2:n.900A>C
NR_049785.2:n.833A>C
NR_049786.2:n.782A>C
NR_049787.2:n.633A>C
NR_049788.2:n.563A>C
NM_001267060.2:c.623A>C	NP_001253989.1:p.Glu208Ala