Canonical Allele Identifier: CA310115435

Gene: NLRP2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55000769C>G , CM000681.2:g.55000769C>G	GRCh38
NC_000019.8:g.60203949C>G	NCBI36
NG_052633.1:g.52640C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448584.7:c.3060C>G MANE Select	ENSP00000409370.2:p.Ile1020Met
ENST00000263437.10:c.3051C>G	ENSP00000263437.6:p.Ile1017Met
ENST00000339757.11:c.2994C>G	ENSP00000344074.7:p.Ile998Met
ENST00000391721.8:c.2988C>G	ENSP00000375601.4:p.Ile996Met
ENST00000427260.6:c.2991C>G	ENSP00000402474.2:p.Ile997Met
ENST00000448584.6:c.3060C>G	ENSP00000409370.2:p.Ile1020Met
ENST00000537859.5:c.2994C>G	ENSP00000440601.1:p.Ile998Met
ENST00000540597.5:n.3371C>G
ENST00000542755.1:n.1403C>G
ENST00000543010.5:c.3060C>G	ENSP00000445135.1:p.Ile1020Met
NM_001174081.1:c.3060C>G	NP_001167552.1:p.Ile1020Met
NM_001174082.1:c.2994C>G	NP_001167553.1:p.Ile998Met
NM_001174083.1:c.2991C>G	NP_001167554.1:p.Ile997Met
NM_017852.3:c.3060C>G	NP_060322.1:p.Ile1020Met
NM_001174081.2:c.3060C>G	NP_001167552.1:p.Ile1020Met
NM_001174082.2:c.2994C>G	NP_001167553.1:p.Ile998Met
NM_001348003.1:c.3051C>G	NP_001334932.1:p.Ile1017Met
NM_017852.4:c.3060C>G	NP_060322.1:p.Ile1020Met
NR_145325.1:n.3404C>G
NM_017852.5:c.3060C>G MANE Select	NP_060322.1:p.Ile1020Met
NM_001174081.3:c.3060C>G	NP_001167552.1:p.Ile1020Met
NM_001174083.2:c.2991C>G	NP_001167554.1:p.Ile997Met
NM_001348003.2:c.3051C>G	NP_001334932.1:p.Ile1017Met
NR_145325.2:n.3372C>G
NM_001174082.3:c.2994C>G	NP_001167553.1:p.Ile998Met