Canonical Allele Identifier: CA346209845

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598018G>C (hg19) ; chr2:g.27375151G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375151G>C , CM000664.2:g.27375151G>C	GRCh38
NC_000002.11:g.27598018G>C , CM000664.1:g.27598018G>C	GRCh37
NC_000002.10:g.27451522G>C	NCBI36
NG_009305.1:g.307C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.772G>C MANE Select	ENSP00000233575.2:p.Glu258Gln
ENST00000233575.6:c.772G>C	ENSP00000233575.2:p.Glu258Gln
ENST00000427123.5:c.*582G>C	ENSP00000405399.1:n.*582G>C
ENST00000440760.5:c.*617G>C	ENSP00000399727.1:n.*617G>C
ENST00000453453.1:c.*299G>C	ENSP00000401922.1:n.*299G>C
ENST00000493711.1:n.489G>C
ENST00000494893.5:n.948G>C
ENST00000537606.5:c.697G>C	ENSP00000439208.1:p.Glu233Gln
NM_001267059.1:c.736G>C	NP_001253988.1:p.Glu246Gln
NM_001267060.1:c.697G>C	NP_001253989.1:p.Glu233Gln
NM_001267061.1:c.712G>C	NP_001253990.1:p.Glu238Gln
NM_014748.3:c.772G>C	NP_055563.1:p.Glu258Gln
NR_049782.1:n.1145G>C
NR_049783.1:n.1118G>C
NR_049784.1:n.1094G>C
NR_049785.1:n.1027G>C
NR_049786.1:n.976G>C
NR_049787.1:n.827G>C
NR_049788.1:n.757G>C
XM_011533203.1:c.130G>C	XP_011531505.1:p.Glu44Gln
XM_011533203.2:c.130G>C	XP_011531505.1:p.Glu44Gln
XM_017005405.2:c.130G>C	XP_016860894.1:p.Glu44Gln
NM_014748.4:c.772G>C MANE Select	NP_055563.1:p.Glu258Gln
NM_001267059.2:c.736G>C	NP_001253988.1:p.Glu246Gln
NM_001267061.2:c.712G>C	NP_001253990.1:p.Glu238Gln
NR_049782.2:n.1025G>C
NR_049783.2:n.998G>C
NR_049784.2:n.974G>C
NR_049785.2:n.907G>C
NR_049786.2:n.856G>C
NR_049787.2:n.707G>C
NR_049788.2:n.637G>C
NM_001267060.2:c.697G>C	NP_001253989.1:p.Glu233Gln