Canonical Allele Identifier: CA346210040

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598398G>C (hg19) ; chr2:g.27375531G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375531G>C , CM000664.2:g.27375531G>C	GRCh38
NC_000002.11:g.27598398G>C , CM000664.1:g.27598398G>C	GRCh37
NC_000002.10:g.27451902G>C	NCBI36
NG_028219.1:g.10214C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.800G>C MANE Select	ENSP00000233575.2:p.Arg267Pro
ENST00000233575.6:c.800G>C	ENSP00000233575.2:p.Arg267Pro
ENST00000427123.5:c.*610G>C	ENSP00000405399.1:n.*610G>C
ENST00000440760.5:c.*645G>C	ENSP00000399727.1:n.*645G>C
ENST00000453453.1:c.*327G>C	ENSP00000401922.1:n.*327G>C
ENST00000493711.1:n.517G>C
ENST00000537606.5:c.725G>C	ENSP00000439208.1:p.Arg242Pro
NM_001267059.1:c.764G>C	NP_001253988.1:p.Arg255Pro
NM_001267060.1:c.725G>C	NP_001253989.1:p.Arg242Pro
NM_001267061.1:c.740G>C	NP_001253990.1:p.Arg247Pro
NM_014748.3:c.800G>C	NP_055563.1:p.Arg267Pro
NR_049782.1:n.1173G>C
NR_049783.1:n.1146G>C
NR_049784.1:n.1122G>C
NR_049785.1:n.1055G>C
NR_049786.1:n.1004G>C
NR_049787.1:n.855G>C
NR_049788.1:n.785G>C
XM_011533203.1:c.158G>C	XP_011531505.1:p.Arg53Pro
XM_011533203.2:c.158G>C	XP_011531505.1:p.Arg53Pro
XM_017005405.2:c.158G>C	XP_016860894.1:p.Arg53Pro
NM_014748.4:c.800G>C MANE Select	NP_055563.1:p.Arg267Pro
NM_001267059.2:c.764G>C	NP_001253988.1:p.Arg255Pro
NM_001267061.2:c.740G>C	NP_001253990.1:p.Arg247Pro
NR_049782.2:n.1053G>C
NR_049783.2:n.1026G>C
NR_049784.2:n.1002G>C
NR_049785.2:n.935G>C
NR_049786.2:n.884G>C
NR_049787.2:n.735G>C
NR_049788.2:n.665G>C
NM_001267060.2:c.725G>C	NP_001253989.1:p.Arg242Pro