Canonical Allele Identifier: CA425415831

Gene: SNX17

Linked Data

• gnomAD v4: 2-27375141-C-T
• MyVariant Identifiers: chr2:g.27598008C>T (hg19)

Genomic Alleles

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

Transcript Alleles

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