Canonical Allele Identifier: CA425415721

Gene: SNX17

Linked Data

• gnomAD v4: 2-27375066-A-T
• MyVariant Identifiers: chr2:g.27597933A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375066A>T , CM000664.2:g.27375066A>T	GRCh38
NC_000002.11:g.27597933A>T , CM000664.1:g.27597933A>T	GRCh37
NC_000002.10:g.27451437A>T	NCBI36
NG_009305.1:g.392T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.687A>T MANE Select	ENSP00000233575.2:p.Val229=
ENST00000233575.6:c.687A>T	ENSP00000233575.2:p.Val229=
ENST00000427123.5:c.*497A>T	ENSP00000405399.1:n.*497A>T
ENST00000440760.5:c.*532A>T	ENSP00000399727.1:n.*532A>T
ENST00000453453.1:c.*214A>T	ENSP00000401922.1:n.*214A>T
ENST00000493711.1:n.404A>T
ENST00000494893.5:n.863A>T
ENST00000537606.5:c.612A>T	ENSP00000439208.1:p.Val204=
NM_001267059.1:c.651A>T	NP_001253988.1:p.Val217=
NM_001267060.1:c.612A>T	NP_001253989.1:p.Val204=
NM_001267061.1:c.627A>T	NP_001253990.1:p.Val209=
NM_014748.3:c.687A>T	NP_055563.1:p.Val229=
NR_049782.1:n.1060A>T
NR_049783.1:n.1033A>T
NR_049784.1:n.1009A>T
NR_049785.1:n.942A>T
NR_049786.1:n.891A>T
NR_049787.1:n.742A>T
NR_049788.1:n.672A>T
XM_011533203.1:c.45A>T	XP_011531505.1:p.Val15=
XM_011533203.2:c.45A>T	XP_011531505.1:p.Val15=
XM_017005405.2:c.45A>T	XP_016860894.1:p.Val15=
NM_014748.4:c.687A>T MANE Select	NP_055563.1:p.Val229=
NM_001267059.2:c.651A>T	NP_001253988.1:p.Val217=
NM_001267061.2:c.627A>T	NP_001253990.1:p.Val209=
NR_049782.2:n.940A>T
NR_049783.2:n.913A>T
NR_049784.2:n.889A>T
NR_049785.2:n.822A>T
NR_049786.2:n.771A>T
NR_049787.2:n.622A>T
NR_049788.2:n.552A>T
NM_001267060.2:c.612A>T	NP_001253989.1:p.Val204=