Canonical Allele Identifier: CA346209687

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597947G>C (hg19) ; chr2:g.27375080G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375080G>C , CM000664.2:g.27375080G>C	GRCh38
NC_000002.11:g.27597947G>C , CM000664.1:g.27597947G>C	GRCh37
NC_000002.10:g.27451451G>C	NCBI36
NG_009305.1:g.378C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.701G>C MANE Select	ENSP00000233575.2:p.Arg234Pro
ENST00000233575.6:c.701G>C	ENSP00000233575.2:p.Arg234Pro
ENST00000427123.5:c.*511G>C	ENSP00000405399.1:n.*511G>C
ENST00000440760.5:c.*546G>C	ENSP00000399727.1:n.*546G>C
ENST00000453453.1:c.*228G>C	ENSP00000401922.1:n.*228G>C
ENST00000493711.1:n.418G>C
ENST00000494893.5:n.877G>C
ENST00000537606.5:c.626G>C	ENSP00000439208.1:p.Arg209Pro
NM_001267059.1:c.665G>C	NP_001253988.1:p.Arg222Pro
NM_001267060.1:c.626G>C	NP_001253989.1:p.Arg209Pro
NM_001267061.1:c.641G>C	NP_001253990.1:p.Arg214Pro
NM_014748.3:c.701G>C	NP_055563.1:p.Arg234Pro
NR_049782.1:n.1074G>C
NR_049783.1:n.1047G>C
NR_049784.1:n.1023G>C
NR_049785.1:n.956G>C
NR_049786.1:n.905G>C
NR_049787.1:n.756G>C
NR_049788.1:n.686G>C
XM_011533203.1:c.59G>C	XP_011531505.1:p.Arg20Pro
XM_011533203.2:c.59G>C	XP_011531505.1:p.Arg20Pro
XM_017005405.2:c.59G>C	XP_016860894.1:p.Arg20Pro
NM_014748.4:c.701G>C MANE Select	NP_055563.1:p.Arg234Pro
NM_001267059.2:c.665G>C	NP_001253988.1:p.Arg222Pro
NM_001267061.2:c.641G>C	NP_001253990.1:p.Arg214Pro
NR_049782.2:n.954G>C
NR_049783.2:n.927G>C
NR_049784.2:n.903G>C
NR_049785.2:n.836G>C
NR_049786.2:n.785G>C
NR_049787.2:n.636G>C
NR_049788.2:n.566G>C
NM_001267060.2:c.626G>C	NP_001253989.1:p.Arg209Pro