Canonical Allele Identifier: CA44524151

Gene: SNX17

Linked Data

• dbSNP Id: rs1054863279
• MyVariant Identifiers: chr2:g.27597959T>C (hg19) ; chr2:g.27375092T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375092T>C , CM000664.2:g.27375092T>C	GRCh38
NC_000002.11:g.27597959T>C , CM000664.1:g.27597959T>C	GRCh37
NC_000002.10:g.27451463T>C	NCBI36
NG_009305.1:g.366A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.713T>C MANE Select	ENSP00000233575.2:p.Leu238Ser
ENST00000233575.6:c.713T>C	ENSP00000233575.2:p.Leu238Ser
ENST00000427123.5:c.*523T>C	ENSP00000405399.1:n.*523T>C
ENST00000440760.5:c.*558T>C	ENSP00000399727.1:n.*558T>C
ENST00000453453.1:c.*240T>C	ENSP00000401922.1:n.*240T>C
ENST00000493711.1:n.430T>C
ENST00000494893.5:n.889T>C
ENST00000537606.5:c.638T>C	ENSP00000439208.1:p.Leu213Ser
NM_001267059.1:c.677T>C	NP_001253988.1:p.Leu226Ser
NM_001267060.1:c.638T>C	NP_001253989.1:p.Leu213Ser
NM_001267061.1:c.653T>C	NP_001253990.1:p.Leu218Ser
NM_014748.3:c.713T>C	NP_055563.1:p.Leu238Ser
NR_049782.1:n.1086T>C
NR_049783.1:n.1059T>C
NR_049784.1:n.1035T>C
NR_049785.1:n.968T>C
NR_049786.1:n.917T>C
NR_049787.1:n.768T>C
NR_049788.1:n.698T>C
XM_011533203.1:c.71T>C	XP_011531505.1:p.Leu24Ser
XM_011533203.2:c.71T>C	XP_011531505.1:p.Leu24Ser
XM_017005405.2:c.71T>C	XP_016860894.1:p.Leu24Ser
NM_014748.4:c.713T>C MANE Select	NP_055563.1:p.Leu238Ser
NM_001267059.2:c.677T>C	NP_001253988.1:p.Leu226Ser
NM_001267061.2:c.653T>C	NP_001253990.1:p.Leu218Ser
NR_049782.2:n.966T>C
NR_049783.2:n.939T>C
NR_049784.2:n.915T>C
NR_049785.2:n.848T>C
NR_049786.2:n.797T>C
NR_049787.2:n.648T>C
NR_049788.2:n.578T>C
NM_001267060.2:c.638T>C	NP_001253989.1:p.Leu213Ser