Canonical Allele Identifier: CA2573054829

Gene: NLRP2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54982330dup , CM000681.2:g.54982330dup	GRCh38
NC_000019.8:g.60185510dup	NCBI36
NG_052633.1:g.34201dup

Transcript Alleles

HGVS	Amino-acid Change
NM_017852.5:c.632dup MANE Select	NP_060322.1:p.Tyr212ValfsTer?
ENST00000448584.7:c.632dup MANE Select	ENSP00000409370.2:p.Tyr212ValfsTer?
NM_001174081.1:c.632dup	NP_001167552.1:p.Tyr212ValfsTer?
NM_001174081.2:c.632dup	NP_001167552.1:p.Tyr212ValfsTer?
NM_001174081.3:c.632dup	NP_001167552.1:p.Tyr212ValfsTer?
NM_001174082.1:c.566dup	NP_001167553.1:p.Tyr190ValfsTer?
NM_001174082.2:c.566dup	NP_001167553.1:p.Tyr190ValfsTer?
NM_001174082.3:c.566dup	NP_001167553.1:p.Tyr190ValfsTer?
NM_001174083.1:c.563dup	NP_001167554.1:p.Tyr189ValfsTer?
NM_001174083.2:c.563dup	NP_001167554.1:p.Tyr189ValfsTer?
NM_001348003.1:c.623dup	NP_001334932.1:p.Tyr209ValfsTer?
NM_001348003.2:c.623dup	NP_001334932.1:p.Tyr209ValfsTer?
NM_017852.3:c.632dup	NP_060322.1:p.Tyr212ValfsTer?
NM_017852.4:c.632dup	NP_060322.1:p.Tyr212ValfsTer?
NR_145325.1:n.775dup
NR_145325.2:n.743dup
ENST00000263437.10:c.623dup	ENSP00000263437.6:p.Tyr209ValfsTer?
ENST00000339757.11:c.566dup	ENSP00000344074.7:p.Tyr190ValfsTer?
ENST00000391721.8:c.560dup	ENSP00000375601.4:p.Tyr188ValfsTer?
ENST00000397169.3:c.428dup	ENSP00000441363.2:p.Tyr144ValfsTer?
ENST00000427260.6:c.563dup	ENSP00000402474.2:p.Tyr189ValfsTer?
ENST00000448584.6:c.632dup	ENSP00000409370.2:p.Tyr212ValfsTer?
ENST00000537859.5:c.566dup	ENSP00000440601.1:p.Tyr190ValfsTer?
ENST00000540597.5:n.742dup
ENST00000543010.5:c.632dup	ENSP00000445135.1:p.Tyr212ValfsTer?