Canonical Allele Identifier: CA425606851

Gene: SNX17

Linked Data

• dbSNP Id: rs1418402320
• gnomAD v2: 2-27598399-G-A
• MyVariant Identifiers: chr2:g.27598399G>A (hg19) ; chr2:g.27375532G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375532G>A , CM000664.2:g.27375532G>A	GRCh38
NC_000002.11:g.27598399G>A , CM000664.1:g.27598399G>A	GRCh37
NC_000002.10:g.27451903G>A	NCBI36
NG_028219.1:g.10213C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.801G>A MANE Select	ENSP00000233575.2:p.Arg267=
ENST00000233575.6:c.801G>A	ENSP00000233575.2:p.Arg267=
ENST00000427123.5:c.*611G>A	ENSP00000405399.1:n.*611G>A
ENST00000440760.5:c.*646G>A	ENSP00000399727.1:n.*646G>A
ENST00000453453.1:c.*328G>A	ENSP00000401922.1:n.*328G>A
ENST00000493711.1:n.518G>A
ENST00000537606.5:c.726G>A	ENSP00000439208.1:p.Arg242=
NM_001267059.1:c.765G>A	NP_001253988.1:p.Arg255=
NM_001267060.1:c.726G>A	NP_001253989.1:p.Arg242=
NM_001267061.1:c.741G>A	NP_001253990.1:p.Arg247=
NM_014748.3:c.801G>A	NP_055563.1:p.Arg267=
NR_049782.1:n.1174G>A
NR_049783.1:n.1147G>A
NR_049784.1:n.1123G>A
NR_049785.1:n.1056G>A
NR_049786.1:n.1005G>A
NR_049787.1:n.856G>A
NR_049788.1:n.786G>A
XM_011533203.1:c.159G>A	XP_011531505.1:p.Arg53=
XM_011533203.2:c.159G>A	XP_011531505.1:p.Arg53=
XM_017005405.2:c.159G>A	XP_016860894.1:p.Arg53=
NM_014748.4:c.801G>A MANE Select	NP_055563.1:p.Arg267=
NM_001267059.2:c.765G>A	NP_001253988.1:p.Arg255=
NM_001267061.2:c.741G>A	NP_001253990.1:p.Arg247=
NR_049782.2:n.1054G>A
NR_049783.2:n.1027G>A
NR_049784.2:n.1003G>A
NR_049785.2:n.936G>A
NR_049786.2:n.885G>A
NR_049787.2:n.736G>A
NR_049788.2:n.666G>A
NM_001267060.2:c.726G>A	NP_001253989.1:p.Arg242=