Canonical Allele Identifier: CA425415783

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597978C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.732C>T MANE Select	ENSP00000233575.2:p.His244=
ENST00000233575.6:c.732C>T	ENSP00000233575.2:p.His244=
ENST00000427123.5:c.*542C>T	ENSP00000405399.1:n.*542C>T
ENST00000440760.5:c.*577C>T	ENSP00000399727.1:n.*577C>T
ENST00000453453.1:c.*259C>T	ENSP00000401922.1:n.*259C>T
ENST00000493711.1:n.449C>T
ENST00000494893.5:n.908C>T
ENST00000537606.5:c.657C>T	ENSP00000439208.1:p.His219=
NM_001267059.1:c.696C>T	NP_001253988.1:p.His232=
NM_001267060.1:c.657C>T	NP_001253989.1:p.His219=
NM_001267061.1:c.672C>T	NP_001253990.1:p.His224=
NM_014748.3:c.732C>T	NP_055563.1:p.His244=
NR_049782.1:n.1105C>T
NR_049783.1:n.1078C>T
NR_049784.1:n.1054C>T
NR_049785.1:n.987C>T
NR_049786.1:n.936C>T
NR_049787.1:n.787C>T
NR_049788.1:n.717C>T
XM_011533203.1:c.90C>T	XP_011531505.1:p.His30=
XM_011533203.2:c.90C>T	XP_011531505.1:p.His30=
XM_017005405.2:c.90C>T	XP_016860894.1:p.His30=
NM_014748.4:c.732C>T MANE Select	NP_055563.1:p.His244=
NM_001267059.2:c.696C>T	NP_001253988.1:p.His232=
NM_001267061.2:c.672C>T	NP_001253990.1:p.His224=
NR_049782.2:n.985C>T
NR_049783.2:n.958C>T
NR_049784.2:n.934C>T
NR_049785.2:n.867C>T
NR_049786.2:n.816C>T
NR_049787.2:n.667C>T
NR_049788.2:n.597C>T
NM_001267060.2:c.657C>T	NP_001253989.1:p.His219=