Canonical Allele Identifier: CA1577401

Gene: SNX17

Linked Data

• dbSNP Id: rs774295430
• ExAC: 2:27597987 C / G
• gnomAD v2: 2-27597987-C-G
• gnomAD v4: 2-27375120-C-G
• MyVariant Identifiers: chr2:g.27597987C>G (hg19) ; chr2:g.27375120C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375120C>G , CM000664.2:g.27375120C>G	GRCh38
NC_000002.11:g.27597987C>G , CM000664.1:g.27597987C>G	GRCh37
NC_000002.10:g.27451491C>G	NCBI36
NG_009305.1:g.338G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.741C>G MANE Select	ENSP00000233575.2:p.Leu247=
ENST00000233575.6:c.741C>G	ENSP00000233575.2:p.Leu247=
ENST00000427123.5:c.*551C>G	ENSP00000405399.1:n.*551C>G
ENST00000440760.5:c.*586C>G	ENSP00000399727.1:n.*586C>G
ENST00000453453.1:c.*268C>G	ENSP00000401922.1:n.*268C>G
ENST00000493711.1:n.458C>G
ENST00000494893.5:n.917C>G
ENST00000537606.5:c.666C>G	ENSP00000439208.1:p.Leu222=
NM_001267059.1:c.705C>G	NP_001253988.1:p.Leu235=
NM_001267060.1:c.666C>G	NP_001253989.1:p.Leu222=
NM_001267061.1:c.681C>G	NP_001253990.1:p.Leu227=
NM_014748.3:c.741C>G	NP_055563.1:p.Leu247=
NR_049782.1:n.1114C>G
NR_049783.1:n.1087C>G
NR_049784.1:n.1063C>G
NR_049785.1:n.996C>G
NR_049786.1:n.945C>G
NR_049787.1:n.796C>G
NR_049788.1:n.726C>G
XM_011533203.1:c.99C>G	XP_011531505.1:p.Leu33=
XM_011533203.2:c.99C>G	XP_011531505.1:p.Leu33=
XM_017005405.2:c.99C>G	XP_016860894.1:p.Leu33=
NM_014748.4:c.741C>G MANE Select	NP_055563.1:p.Leu247=
NM_001267059.2:c.705C>G	NP_001253988.1:p.Leu235=
NM_001267061.2:c.681C>G	NP_001253990.1:p.Leu227=
NR_049782.2:n.994C>G
NR_049783.2:n.967C>G
NR_049784.2:n.943C>G
NR_049785.2:n.876C>G
NR_049786.2:n.825C>G
NR_049787.2:n.676C>G
NR_049788.2:n.606C>G
NM_001267060.2:c.666C>G	NP_001253989.1:p.Leu222=