Canonical Allele Identifier: CA346209756

Gene: SNX17

Linked Data

• gnomAD v4: 2-27375111-C-A
• MyVariant Identifiers: chr2:g.27597978C>A (hg19) ; chr2:g.27375111C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375111C>A , CM000664.2:g.27375111C>A	GRCh38
NC_000002.11:g.27597978C>A , CM000664.1:g.27597978C>A	GRCh37
NC_000002.10:g.27451482C>A	NCBI36
NG_009305.1:g.347G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.732C>A MANE Select	ENSP00000233575.2:p.His244Gln
ENST00000233575.6:c.732C>A	ENSP00000233575.2:p.His244Gln
ENST00000427123.5:c.*542C>A	ENSP00000405399.1:n.*542C>A
ENST00000440760.5:c.*577C>A	ENSP00000399727.1:n.*577C>A
ENST00000453453.1:c.*259C>A	ENSP00000401922.1:n.*259C>A
ENST00000493711.1:n.449C>A
ENST00000494893.5:n.908C>A
ENST00000537606.5:c.657C>A	ENSP00000439208.1:p.His219Gln
NM_001267059.1:c.696C>A	NP_001253988.1:p.His232Gln
NM_001267060.1:c.657C>A	NP_001253989.1:p.His219Gln
NM_001267061.1:c.672C>A	NP_001253990.1:p.His224Gln
NM_014748.3:c.732C>A	NP_055563.1:p.His244Gln
NR_049782.1:n.1105C>A
NR_049783.1:n.1078C>A
NR_049784.1:n.1054C>A
NR_049785.1:n.987C>A
NR_049786.1:n.936C>A
NR_049787.1:n.787C>A
NR_049788.1:n.717C>A
XM_011533203.1:c.90C>A	XP_011531505.1:p.His30Gln
XM_011533203.2:c.90C>A	XP_011531505.1:p.His30Gln
XM_017005405.2:c.90C>A	XP_016860894.1:p.His30Gln
NM_014748.4:c.732C>A MANE Select	NP_055563.1:p.His244Gln
NM_001267059.2:c.696C>A	NP_001253988.1:p.His232Gln
NM_001267061.2:c.672C>A	NP_001253990.1:p.His224Gln
NR_049782.2:n.985C>A
NR_049783.2:n.958C>A
NR_049784.2:n.934C>A
NR_049785.2:n.867C>A
NR_049786.2:n.816C>A
NR_049787.2:n.667C>A
NR_049788.2:n.597C>A
NM_001267060.2:c.657C>A	NP_001253989.1:p.His219Gln