Canonical Allele Identifier: CA346209659

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597934T>C (hg19) ; chr2:g.27375067T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375067T>C , CM000664.2:g.27375067T>C	GRCh38
NC_000002.11:g.27597934T>C , CM000664.1:g.27597934T>C	GRCh37
NC_000002.10:g.27451438T>C	NCBI36
NG_009305.1:g.391A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.688T>C MANE Select	ENSP00000233575.2:p.Ser230Pro
ENST00000233575.6:c.688T>C	ENSP00000233575.2:p.Ser230Pro
ENST00000427123.5:c.*498T>C	ENSP00000405399.1:n.*498T>C
ENST00000440760.5:c.*533T>C	ENSP00000399727.1:n.*533T>C
ENST00000453453.1:c.*215T>C	ENSP00000401922.1:n.*215T>C
ENST00000493711.1:n.405T>C
ENST00000494893.5:n.864T>C
ENST00000537606.5:c.613T>C	ENSP00000439208.1:p.Ser205Pro
NM_001267059.1:c.652T>C	NP_001253988.1:p.Ser218Pro
NM_001267060.1:c.613T>C	NP_001253989.1:p.Ser205Pro
NM_001267061.1:c.628T>C	NP_001253990.1:p.Ser210Pro
NM_014748.3:c.688T>C	NP_055563.1:p.Ser230Pro
NR_049782.1:n.1061T>C
NR_049783.1:n.1034T>C
NR_049784.1:n.1010T>C
NR_049785.1:n.943T>C
NR_049786.1:n.892T>C
NR_049787.1:n.743T>C
NR_049788.1:n.673T>C
XM_011533203.1:c.46T>C	XP_011531505.1:p.Ser16Pro
XM_011533203.2:c.46T>C	XP_011531505.1:p.Ser16Pro
XM_017005405.2:c.46T>C	XP_016860894.1:p.Ser16Pro
NM_014748.4:c.688T>C MANE Select	NP_055563.1:p.Ser230Pro
NM_001267059.2:c.652T>C	NP_001253988.1:p.Ser218Pro
NM_001267061.2:c.628T>C	NP_001253990.1:p.Ser210Pro
NR_049782.2:n.941T>C
NR_049783.2:n.914T>C
NR_049784.2:n.890T>C
NR_049785.2:n.823T>C
NR_049786.2:n.772T>C
NR_049787.2:n.623T>C
NR_049788.2:n.553T>C
NM_001267060.2:c.613T>C	NP_001253989.1:p.Ser205Pro