Canonical Allele Identifier: CA346209736

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597970G>T (hg19) ; chr2:g.27375103G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375103G>T , CM000664.2:g.27375103G>T	GRCh38
NC_000002.11:g.27597970G>T , CM000664.1:g.27597970G>T	GRCh37
NC_000002.10:g.27451474G>T	NCBI36
NG_009305.1:g.355C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.724G>T MANE Select	ENSP00000233575.2:p.Glu242Ter
ENST00000233575.6:c.724G>T	ENSP00000233575.2:p.Glu242Ter
ENST00000427123.5:c.*534G>T	ENSP00000405399.1:n.*534G>T
ENST00000440760.5:c.*569G>T	ENSP00000399727.1:n.*569G>T
ENST00000453453.1:c.*251G>T	ENSP00000401922.1:n.*251G>T
ENST00000493711.1:n.441G>T
ENST00000494893.5:n.900G>T
ENST00000537606.5:c.649G>T	ENSP00000439208.1:p.Glu217Ter
NM_001267059.1:c.688G>T	NP_001253988.1:p.Glu230Ter
NM_001267060.1:c.649G>T	NP_001253989.1:p.Glu217Ter
NM_001267061.1:c.664G>T	NP_001253990.1:p.Glu222Ter
NM_014748.3:c.724G>T	NP_055563.1:p.Glu242Ter
NR_049782.1:n.1097G>T
NR_049783.1:n.1070G>T
NR_049784.1:n.1046G>T
NR_049785.1:n.979G>T
NR_049786.1:n.928G>T
NR_049787.1:n.779G>T
NR_049788.1:n.709G>T
XM_011533203.1:c.82G>T	XP_011531505.1:p.Glu28Ter
XM_011533203.2:c.82G>T	XP_011531505.1:p.Glu28Ter
XM_017005405.2:c.82G>T	XP_016860894.1:p.Glu28Ter
NM_014748.4:c.724G>T MANE Select	NP_055563.1:p.Glu242Ter
NM_001267059.2:c.688G>T	NP_001253988.1:p.Glu230Ter
NM_001267061.2:c.664G>T	NP_001253990.1:p.Glu222Ter
NR_049782.2:n.977G>T
NR_049783.2:n.950G>T
NR_049784.2:n.926G>T
NR_049785.2:n.859G>T
NR_049786.2:n.808G>T
NR_049787.2:n.659G>T
NR_049788.2:n.589G>T
NM_001267060.2:c.649G>T	NP_001253989.1:p.Glu217Ter