Canonical Allele Identifier: CA230066

Gene: NLRP2

Linked Data

• ClinVar Variation Id: 103068
• ClinVar RCV Id: RCV000089328
• dbSNP Id: rs199475711
• gnomAD v3: 19-54974673-G-A
• gnomAD v4: 19-54974673-G-A
• MyVariant Identifiers: chr19:g.54974673G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54974673G>A , CM000681.2:g.54974673G>A	GRCh38
NC_000019.8:g.60177853G>A	NCBI36
NG_052633.1:g.26544G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448584.7:c.325+129G>A MANE Select	ENSP00000409370.2:n.325+129G>A
ENST00000263437.10:c.325+129G>A	ENSP00000263437.6:n.325+129G>A
ENST00000339757.11:c.325+129G>A	ENSP00000344074.7:n.325+129G>A
ENST00000391721.8:c.325+129G>A	ENSP00000375601.4:n.325+129G>A
ENST00000397169.3:c.121+129G>A	ENSP00000441363.2:n.121+129G>A
ENST00000427260.6:c.256+129G>A	ENSP00000402474.2:n.256+129G>A
ENST00000433772.6:c.325+129G>A	ENSP00000443519.1:n.325+129G>A
ENST00000448584.6:c.325+129G>A	ENSP00000409370.2:n.325+129G>A
ENST00000537859.5:c.325+129G>A	ENSP00000440601.1:n.325+129G>A
ENST00000539848.5:c.325+129G>A	ENSP00000442351.1:n.325+129G>A
ENST00000540597.5:n.435+129G>A
ENST00000543010.5:c.325+129G>A	ENSP00000445135.1:n.325+129G>A
ENST00000585500.5:c.118+129G>A	ENSP00000467349.1:n.118+129G>A
ENST00000588107.5:c.325+129G>A	ENSP00000465069.1:n.325+129G>A
ENST00000588619.5:c.325+129G>A	ENSP00000466260.1:n.325+129G>A
NM_001174081.1:c.325+129G>A	NP_001167552.1:n.325+129G>A
NM_001174082.1:c.325+129G>A	NP_001167553.1:n.325+129G>A
NM_001174083.1:c.256+129G>A	NP_001167554.1:n.256+129G>A
NM_017852.3:c.325+129G>A	NP_060322.1:n.325+129G>A
NM_001174081.2:c.325+129G>A	NP_001167552.1:n.325+129G>A
NM_001174082.2:c.325+129G>A	NP_001167553.1:n.325+129G>A
NM_001348003.1:c.325+129G>A	NP_001334932.1:n.325+129G>A
NM_017852.4:c.325+129G>A	NP_060322.1:n.325+129G>A
NR_145325.1:n.468+129G>A
NM_017852.5:c.325+129G>A MANE Select	NP_060322.1:n.325+129G>A
NM_001174081.3:c.325+129G>A	NP_001167552.1:n.325+129G>A
NM_001174083.2:c.256+129G>A	NP_001167554.1:n.256+129G>A
NM_001348003.2:c.325+129G>A	NP_001334932.1:n.325+129G>A
NR_145325.2:n.436+129G>A
NM_001174082.3:c.325+129G>A	NP_001167553.1:n.325+129G>A