Canonical Allele Identifier: CA425606847

Gene: SNX17

Linked Data

• gnomAD v4: 2-27375530-C-A
• MyVariant Identifiers: chr2:g.27598397C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375530C>A , CM000664.2:g.27375530C>A	GRCh38
NC_000002.11:g.27598397C>A , CM000664.1:g.27598397C>A	GRCh37
NC_000002.10:g.27451901C>A	NCBI36
NG_028219.1:g.10215G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.799C>A MANE Select	ENSP00000233575.2:p.Arg267=
ENST00000233575.6:c.799C>A	ENSP00000233575.2:p.Arg267=
ENST00000427123.5:c.*609C>A	ENSP00000405399.1:n.*609C>A
ENST00000440760.5:c.*644C>A	ENSP00000399727.1:n.*644C>A
ENST00000453453.1:c.*326C>A	ENSP00000401922.1:n.*326C>A
ENST00000493711.1:n.516C>A
ENST00000537606.5:c.724C>A	ENSP00000439208.1:p.Arg242=
NM_001267059.1:c.763C>A	NP_001253988.1:p.Arg255=
NM_001267060.1:c.724C>A	NP_001253989.1:p.Arg242=
NM_001267061.1:c.739C>A	NP_001253990.1:p.Arg247=
NM_014748.3:c.799C>A	NP_055563.1:p.Arg267=
NR_049782.1:n.1172C>A
NR_049783.1:n.1145C>A
NR_049784.1:n.1121C>A
NR_049785.1:n.1054C>A
NR_049786.1:n.1003C>A
NR_049787.1:n.854C>A
NR_049788.1:n.784C>A
XM_011533203.1:c.157C>A	XP_011531505.1:p.Arg53=
XM_011533203.2:c.157C>A	XP_011531505.1:p.Arg53=
XM_017005405.2:c.157C>A	XP_016860894.1:p.Arg53=
NM_014748.4:c.799C>A MANE Select	NP_055563.1:p.Arg267=
NM_001267059.2:c.763C>A	NP_001253988.1:p.Arg255=
NM_001267061.2:c.739C>A	NP_001253990.1:p.Arg247=
NR_049782.2:n.1052C>A
NR_049783.2:n.1025C>A
NR_049784.2:n.1001C>A
NR_049785.2:n.934C>A
NR_049786.2:n.883C>A
NR_049787.2:n.734C>A
NR_049788.2:n.664C>A
NM_001267060.2:c.724C>A	NP_001253989.1:p.Arg242=