Canonical Allele Identifier: CA407457237
Community Standard Title: NM_017852.5(NLRP2):c.3050+1G>A
Gene: NLRP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.54997488G>A , CM000681.2:g.54997488G>A GRCh38
NC_000019.8:g.60200668G>A NCBI36
NG_052633.1:g.49359G>A

Transcript Alleles

HGVS Amino-acid Change
NM_017852.5:c.3050+1G>A MANE Select NP_060322.1:n.3050+1G>A
ENST00000448584.7:c.3050+1G>A MANE Select ENSP00000409370.2:n.3050+1G>A
NM_001174081.1:c.3050+1G>A NP_001167552.1:n.3050+1G>A
NM_001174081.2:c.3050+1G>A NP_001167552.1:n.3050+1G>A
NM_001174081.3:c.3050+1G>A NP_001167552.1:n.3050+1G>A
NM_001174082.1:c.2984+1G>A NP_001167553.1:n.2984+1G>A
NM_001174082.2:c.2984+1G>A NP_001167553.1:n.2984+1G>A
NM_001174082.3:c.2984+1G>A NP_001167553.1:n.2984+1G>A
NM_001174083.1:c.2981+1G>A NP_001167554.1:n.2981+1G>A
NM_001174083.2:c.2981+1G>A NP_001167554.1:n.2981+1G>A
NM_001348003.1:c.3041+1G>A NP_001334932.1:n.3041+1G>A
NM_001348003.2:c.3041+1G>A NP_001334932.1:n.3041+1G>A
NM_017852.3:c.3050+1G>A NP_060322.1:n.3050+1G>A
NM_017852.4:c.3050+1G>A NP_060322.1:n.3050+1G>A
NR_145325.1:n.3394+1G>A
NR_145325.2:n.3362+1G>A
ENST00000263437.10:c.3041+1G>A ENSP00000263437.6:n.3041+1G>A
ENST00000339757.11:c.2984+1G>A ENSP00000344074.7:n.2984+1G>A
ENST00000391721.8:c.2978+1G>A ENSP00000375601.4:n.2978+1G>A
ENST00000427260.6:c.2981+1G>A ENSP00000402474.2:n.2981+1G>A
ENST00000448584.6:c.3050+1G>A ENSP00000409370.2:n.3050+1G>A
ENST00000537859.5:c.2984+1G>A ENSP00000440601.1:n.2984+1G>A
ENST00000540597.5:n.3361+1G>A
ENST00000542755.1:n.1393+1G>A
ENST00000543010.5:c.3050+1G>A ENSP00000445135.1:n.3050+1G>A