Canonical Allele Identifier: CA425415830

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598008C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375141C>G , CM000664.2:g.27375141C>G	GRCh38
NC_000002.11:g.27598008C>G , CM000664.1:g.27598008C>G	GRCh37
NC_000002.10:g.27451512C>G	NCBI36
NG_009305.1:g.317G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.762C>G MANE Select	ENSP00000233575.2:p.Val254=
ENST00000233575.6:c.762C>G	ENSP00000233575.2:p.Val254=
ENST00000427123.5:c.*572C>G	ENSP00000405399.1:n.*572C>G
ENST00000440760.5:c.*607C>G	ENSP00000399727.1:n.*607C>G
ENST00000453453.1:c.*289C>G	ENSP00000401922.1:n.*289C>G
ENST00000493711.1:n.479C>G
ENST00000494893.5:n.938C>G
ENST00000537606.5:c.687C>G	ENSP00000439208.1:p.Val229=
NM_001267059.1:c.726C>G	NP_001253988.1:p.Val242=
NM_001267060.1:c.687C>G	NP_001253989.1:p.Val229=
NM_001267061.1:c.702C>G	NP_001253990.1:p.Val234=
NM_014748.3:c.762C>G	NP_055563.1:p.Val254=
NR_049782.1:n.1135C>G
NR_049783.1:n.1108C>G
NR_049784.1:n.1084C>G
NR_049785.1:n.1017C>G
NR_049786.1:n.966C>G
NR_049787.1:n.817C>G
NR_049788.1:n.747C>G
XM_011533203.1:c.120C>G	XP_011531505.1:p.Val40=
XM_011533203.2:c.120C>G	XP_011531505.1:p.Val40=
XM_017005405.2:c.120C>G	XP_016860894.1:p.Val40=
NM_014748.4:c.762C>G MANE Select	NP_055563.1:p.Val254=
NM_001267059.2:c.726C>G	NP_001253988.1:p.Val242=
NM_001267061.2:c.702C>G	NP_001253990.1:p.Val234=
NR_049782.2:n.1015C>G
NR_049783.2:n.988C>G
NR_049784.2:n.964C>G
NR_049785.2:n.897C>G
NR_049786.2:n.846C>G
NR_049787.2:n.697C>G
NR_049788.2:n.627C>G
NM_001267060.2:c.687C>G	NP_001253989.1:p.Val229=