Canonical Allele Identifier: CA346209696

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597952T>C (hg19) ; chr2:g.27375085T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375085T>C , CM000664.2:g.27375085T>C	GRCh38
NC_000002.11:g.27597952T>C , CM000664.1:g.27597952T>C	GRCh37
NC_000002.10:g.27451456T>C	NCBI36
NG_009305.1:g.373A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.706T>C MANE Select	ENSP00000233575.2:p.Trp236Arg
ENST00000233575.6:c.706T>C	ENSP00000233575.2:p.Trp236Arg
ENST00000427123.5:c.*516T>C	ENSP00000405399.1:n.*516T>C
ENST00000440760.5:c.*551T>C	ENSP00000399727.1:n.*551T>C
ENST00000453453.1:c.*233T>C	ENSP00000401922.1:n.*233T>C
ENST00000493711.1:n.423T>C
ENST00000494893.5:n.882T>C
ENST00000537606.5:c.631T>C	ENSP00000439208.1:p.Trp211Arg
NM_001267059.1:c.670T>C	NP_001253988.1:p.Trp224Arg
NM_001267060.1:c.631T>C	NP_001253989.1:p.Trp211Arg
NM_001267061.1:c.646T>C	NP_001253990.1:p.Trp216Arg
NM_014748.3:c.706T>C	NP_055563.1:p.Trp236Arg
NR_049782.1:n.1079T>C
NR_049783.1:n.1052T>C
NR_049784.1:n.1028T>C
NR_049785.1:n.961T>C
NR_049786.1:n.910T>C
NR_049787.1:n.761T>C
NR_049788.1:n.691T>C
XM_011533203.1:c.64T>C	XP_011531505.1:p.Trp22Arg
XM_011533203.2:c.64T>C	XP_011531505.1:p.Trp22Arg
XM_017005405.2:c.64T>C	XP_016860894.1:p.Trp22Arg
NM_014748.4:c.706T>C MANE Select	NP_055563.1:p.Trp236Arg
NM_001267059.2:c.670T>C	NP_001253988.1:p.Trp224Arg
NM_001267061.2:c.646T>C	NP_001253990.1:p.Trp216Arg
NR_049782.2:n.959T>C
NR_049783.2:n.932T>C
NR_049784.2:n.908T>C
NR_049785.2:n.841T>C
NR_049786.2:n.790T>C
NR_049787.2:n.641T>C
NR_049788.2:n.571T>C
NM_001267060.2:c.631T>C	NP_001253989.1:p.Trp211Arg