Canonical Allele Identifier: CA230020

Gene: NLRP2

Linked Data

• ClinVar Variation Id: 103048
• ClinVar RCV Id: RCV000089308
• dbSNP Id: rs199475714
• gnomAD v3: 19-54982751-G-A
• gnomAD v4: 19-54982751-G-A
• MyVariant Identifiers: chr19:g.54982751G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54982751G>A , CM000681.2:g.54982751G>A	GRCh38
NC_000019.8:g.60185931G>A	NCBI36
NG_052633.1:g.34622G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448584.7:c.1053G>A MANE Select	ENSP00000409370.2:p.Pro351=
ENST00000263437.10:c.1044G>A	ENSP00000263437.6:p.Pro348=
ENST00000339757.11:c.987G>A	ENSP00000344074.7:p.Pro329=
ENST00000391721.8:c.981G>A	ENSP00000375601.4:p.Pro327=
ENST00000427260.6:c.984G>A	ENSP00000402474.2:p.Pro328=
ENST00000448584.6:c.1053G>A	ENSP00000409370.2:p.Pro351=
ENST00000537859.5:c.987G>A	ENSP00000440601.1:p.Pro329=
ENST00000540597.5:n.1163G>A
ENST00000543010.5:c.1053G>A	ENSP00000445135.1:p.Pro351=
NM_001174081.1:c.1053G>A	NP_001167552.1:p.Pro351=
NM_001174082.1:c.987G>A	NP_001167553.1:p.Pro329=
NM_001174083.1:c.984G>A	NP_001167554.1:p.Pro328=
NM_017852.3:c.1053G>A	NP_060322.1:p.Pro351=
NM_001174081.2:c.1053G>A	NP_001167552.1:p.Pro351=
NM_001174082.2:c.987G>A	NP_001167553.1:p.Pro329=
NM_001348003.1:c.1044G>A	NP_001334932.1:p.Pro348=
NM_017852.4:c.1053G>A	NP_060322.1:p.Pro351=
NR_145325.1:n.1196G>A
NM_017852.5:c.1053G>A MANE Select	NP_060322.1:p.Pro351=
NM_001174081.3:c.1053G>A	NP_001167552.1:p.Pro351=
NM_001174083.2:c.984G>A	NP_001167554.1:p.Pro328=
NM_001348003.2:c.1044G>A	NP_001334932.1:p.Pro348=
NR_145325.2:n.1164G>A
NM_001174082.3:c.987G>A	NP_001167553.1:p.Pro329=