Canonical Allele Identifier: CA310103570

Gene: NLRP2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54982708G>A , CM000681.2:g.54982708G>A	GRCh38
NC_000019.8:g.60185888G>A	NCBI36
NG_052633.1:g.34579G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017852.5:c.1010G>A MANE Select	NP_060322.1:p.Arg337Gln
ENST00000448584.7:c.1010G>A MANE Select	ENSP00000409370.2:p.Arg337Gln
NM_001174081.1:c.1010G>A	NP_001167552.1:p.Arg337Gln
NM_001174081.2:c.1010G>A	NP_001167552.1:p.Arg337Gln
NM_001174081.3:c.1010G>A	NP_001167552.1:p.Arg337Gln
NM_001174082.1:c.944G>A	NP_001167553.1:p.Arg315Gln
NM_001174082.2:c.944G>A	NP_001167553.1:p.Arg315Gln
NM_001174082.3:c.944G>A	NP_001167553.1:p.Arg315Gln
NM_001174083.1:c.941G>A	NP_001167554.1:p.Arg314Gln
NM_001174083.2:c.941G>A	NP_001167554.1:p.Arg314Gln
NM_001348003.1:c.1001G>A	NP_001334932.1:p.Arg334Gln
NM_001348003.2:c.1001G>A	NP_001334932.1:p.Arg334Gln
NM_017852.3:c.1010G>A	NP_060322.1:p.Arg337Gln
NM_017852.4:c.1010G>A	NP_060322.1:p.Arg337Gln
NR_145325.1:n.1153G>A
NR_145325.2:n.1121G>A
ENST00000263437.10:c.1001G>A	ENSP00000263437.6:p.Arg334Gln
ENST00000339757.11:c.944G>A	ENSP00000344074.7:p.Arg315Gln
ENST00000391721.8:c.938G>A	ENSP00000375601.4:p.Arg313Gln
ENST00000427260.6:c.941G>A	ENSP00000402474.2:p.Arg314Gln
ENST00000448584.6:c.1010G>A	ENSP00000409370.2:p.Arg337Gln
ENST00000537859.5:c.944G>A	ENSP00000440601.1:p.Arg315Gln
ENST00000540597.5:n.1120G>A
ENST00000543010.5:c.1010G>A	ENSP00000445135.1:p.Arg337Gln