Canonical Allele Identifier: CA346209789

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597995T>G (hg19) ; chr2:g.27375128T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375128T>G , CM000664.2:g.27375128T>G	GRCh38
NC_000002.11:g.27597995T>G , CM000664.1:g.27597995T>G	GRCh37
NC_000002.10:g.27451499T>G	NCBI36
NG_009305.1:g.330A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.749T>G MANE Select	ENSP00000233575.2:p.Leu250Arg
ENST00000233575.6:c.749T>G	ENSP00000233575.2:p.Leu250Arg
ENST00000427123.5:c.*559T>G	ENSP00000405399.1:n.*559T>G
ENST00000440760.5:c.*594T>G	ENSP00000399727.1:n.*594T>G
ENST00000453453.1:c.*276T>G	ENSP00000401922.1:n.*276T>G
ENST00000493711.1:n.466T>G
ENST00000494893.5:n.925T>G
ENST00000537606.5:c.674T>G	ENSP00000439208.1:p.Leu225Arg
NM_001267059.1:c.713T>G	NP_001253988.1:p.Leu238Arg
NM_001267060.1:c.674T>G	NP_001253989.1:p.Leu225Arg
NM_001267061.1:c.689T>G	NP_001253990.1:p.Leu230Arg
NM_014748.3:c.749T>G	NP_055563.1:p.Leu250Arg
NR_049782.1:n.1122T>G
NR_049783.1:n.1095T>G
NR_049784.1:n.1071T>G
NR_049785.1:n.1004T>G
NR_049786.1:n.953T>G
NR_049787.1:n.804T>G
NR_049788.1:n.734T>G
XM_011533203.1:c.107T>G	XP_011531505.1:p.Leu36Arg
XM_011533203.2:c.107T>G	XP_011531505.1:p.Leu36Arg
XM_017005405.2:c.107T>G	XP_016860894.1:p.Leu36Arg
NM_014748.4:c.749T>G MANE Select	NP_055563.1:p.Leu250Arg
NM_001267059.2:c.713T>G	NP_001253988.1:p.Leu238Arg
NM_001267061.2:c.689T>G	NP_001253990.1:p.Leu230Arg
NR_049782.2:n.1002T>G
NR_049783.2:n.975T>G
NR_049784.2:n.951T>G
NR_049785.2:n.884T>G
NR_049786.2:n.833T>G
NR_049787.2:n.684T>G
NR_049788.2:n.614T>G
NM_001267060.2:c.674T>G	NP_001253989.1:p.Leu225Arg