Canonical Allele Identifier: CA346209983

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598382C>A (hg19) ; chr2:g.27375515C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375515C>A , CM000664.2:g.27375515C>A	GRCh38
NC_000002.11:g.27598382C>A , CM000664.1:g.27598382C>A	GRCh37
NC_000002.10:g.27451886C>A	NCBI36
NG_028219.1:g.10230G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.784C>A MANE Select	ENSP00000233575.2:p.Leu262Met
ENST00000233575.6:c.784C>A	ENSP00000233575.2:p.Leu262Met
ENST00000427123.5:c.*594C>A	ENSP00000405399.1:n.*594C>A
ENST00000440760.5:c.*629C>A	ENSP00000399727.1:n.*629C>A
ENST00000453453.1:c.*311C>A	ENSP00000401922.1:n.*311C>A
ENST00000493711.1:n.501C>A
ENST00000494893.5:n.960C>A
ENST00000537606.5:c.709C>A	ENSP00000439208.1:p.Leu237Met
NM_001267059.1:c.748C>A	NP_001253988.1:p.Leu250Met
NM_001267060.1:c.709C>A	NP_001253989.1:p.Leu237Met
NM_001267061.1:c.724C>A	NP_001253990.1:p.Leu242Met
NM_014748.3:c.784C>A	NP_055563.1:p.Leu262Met
NR_049782.1:n.1157C>A
NR_049783.1:n.1130C>A
NR_049784.1:n.1106C>A
NR_049785.1:n.1039C>A
NR_049786.1:n.988C>A
NR_049787.1:n.839C>A
NR_049788.1:n.769C>A
XM_011533203.1:c.142C>A	XP_011531505.1:p.Leu48Met
XM_011533203.2:c.142C>A	XP_011531505.1:p.Leu48Met
XM_017005405.2:c.142C>A	XP_016860894.1:p.Leu48Met
NM_014748.4:c.784C>A MANE Select	NP_055563.1:p.Leu262Met
NM_001267059.2:c.748C>A	NP_001253988.1:p.Leu250Met
NM_001267061.2:c.724C>A	NP_001253990.1:p.Leu242Met
NR_049782.2:n.1037C>A
NR_049783.2:n.1010C>A
NR_049784.2:n.986C>A
NR_049785.2:n.919C>A
NR_049786.2:n.868C>A
NR_049787.2:n.719C>A
NR_049788.2:n.649C>A
NM_001267060.2:c.709C>A	NP_001253989.1:p.Leu237Met