Canonical Allele Identifier: CA310104933

Gene: NLRP2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54983264A>G , CM000681.2:g.54983264A>G	GRCh38
NC_000019.8:g.60186444A>G	NCBI36
NG_052633.1:g.35135A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_017852.5:c.1566A>G MANE Select	NP_060322.1:p.Glu522=
ENST00000448584.7:c.1566A>G MANE Select	ENSP00000409370.2:p.Glu522=
NM_001174081.1:c.1566A>G	NP_001167552.1:p.Glu522=
NM_001174081.2:c.1566A>G	NP_001167552.1:p.Glu522=
NM_001174081.3:c.1566A>G	NP_001167552.1:p.Glu522=
NM_001174082.1:c.1500A>G	NP_001167553.1:p.Glu500=
NM_001174082.2:c.1500A>G	NP_001167553.1:p.Glu500=
NM_001174082.3:c.1500A>G	NP_001167553.1:p.Glu500=
NM_001174083.1:c.1497A>G	NP_001167554.1:p.Glu499=
NM_001174083.2:c.1497A>G	NP_001167554.1:p.Glu499=
NM_001348003.1:c.1557A>G	NP_001334932.1:p.Glu519=
NM_001348003.2:c.1557A>G	NP_001334932.1:p.Glu519=
NM_017852.3:c.1566A>G	NP_060322.1:p.Glu522=
NM_017852.4:c.1566A>G	NP_060322.1:p.Glu522=
NR_145325.1:n.1709A>G
NR_145325.2:n.1677A>G
ENST00000263437.10:c.1557A>G	ENSP00000263437.6:p.Glu519=
ENST00000339757.11:c.1500A>G	ENSP00000344074.7:p.Glu500=
ENST00000391721.8:c.1494A>G	ENSP00000375601.4:p.Glu498=
ENST00000427260.6:c.1497A>G	ENSP00000402474.2:p.Glu499=
ENST00000448584.6:c.1566A>G	ENSP00000409370.2:p.Glu522=
ENST00000537859.5:c.1500A>G	ENSP00000440601.1:p.Glu500=
ENST00000540597.5:n.1676A>G
ENST00000543010.5:c.1566A>G	ENSP00000445135.1:p.Glu522=