Canonical Allele Identifier: CA425415756

Gene: SNX17

Linked Data

• dbSNP Id: rs1683036335
• gnomAD v3: 2-27375090-C-T
• gnomAD v4: 2-27375090-C-T
• MyVariant Identifiers: chr2:g.27597957C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375090C>T , CM000664.2:g.27375090C>T	GRCh38
NC_000002.11:g.27597957C>T , CM000664.1:g.27597957C>T	GRCh37
NC_000002.10:g.27451461C>T	NCBI36
NG_009305.1:g.368G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.711C>T MANE Select	ENSP00000233575.2:p.Ile237=
ENST00000233575.6:c.711C>T	ENSP00000233575.2:p.Ile237=
ENST00000427123.5:c.*521C>T	ENSP00000405399.1:n.*521C>T
ENST00000440760.5:c.*556C>T	ENSP00000399727.1:n.*556C>T
ENST00000453453.1:c.*238C>T	ENSP00000401922.1:n.*238C>T
ENST00000493711.1:n.428C>T
ENST00000494893.5:n.887C>T
ENST00000537606.5:c.636C>T	ENSP00000439208.1:p.Ile212=
NM_001267059.1:c.675C>T	NP_001253988.1:p.Ile225=
NM_001267060.1:c.636C>T	NP_001253989.1:p.Ile212=
NM_001267061.1:c.651C>T	NP_001253990.1:p.Ile217=
NM_014748.3:c.711C>T	NP_055563.1:p.Ile237=
NR_049782.1:n.1084C>T
NR_049783.1:n.1057C>T
NR_049784.1:n.1033C>T
NR_049785.1:n.966C>T
NR_049786.1:n.915C>T
NR_049787.1:n.766C>T
NR_049788.1:n.696C>T
XM_011533203.1:c.69C>T	XP_011531505.1:p.Ile23=
XM_011533203.2:c.69C>T	XP_011531505.1:p.Ile23=
XM_017005405.2:c.69C>T	XP_016860894.1:p.Ile23=
NM_014748.4:c.711C>T MANE Select	NP_055563.1:p.Ile237=
NM_001267059.2:c.675C>T	NP_001253988.1:p.Ile225=
NM_001267061.2:c.651C>T	NP_001253990.1:p.Ile217=
NR_049782.2:n.964C>T
NR_049783.2:n.937C>T
NR_049784.2:n.913C>T
NR_049785.2:n.846C>T
NR_049786.2:n.795C>T
NR_049787.2:n.646C>T
NR_049788.2:n.576C>T
NM_001267060.2:c.636C>T	NP_001253989.1:p.Ile212=