Canonical Allele Identifier: CA342111
Gene: NPC2 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.74484483A>G
GRCh37 chr14:g.74951186A>G
Revel Score:
ENST00000434013 0.960
ENST00000541064 0.960
ENST00000555619 (MANE Select) 0.960
ENST00000238633 0.960
ENST00000553490 0.960
ENST00000557510 0.960
ENST00000555592 0.960
ClinVar RCV:
RCV000020646
RCV003398552
ClinVar Variation:
21458
dbSNP:
80358264
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74484483A>G , CM000676.2:g.74484483A>G GRCh38
NC_000014.8:g.74951186A>G , CM000676.1:g.74951186A>G GRCh37
NC_000014.7:g.74020939A>G NCBI36
NG_007117.1:g.13899T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000555619.6:c.295T>C MANE Select ENSP00000451112.2:p.Cys99Arg
ENST00000238633.6:c.295T>C ENSP00000238633.2:p.Cys99Arg
ENST00000434013.6:c.295T>C ENSP00000412103.2:p.Cys99Arg
ENST00000541064.5:c.295T>C ENSP00000442488.1:p.Cys99Arg
ENST00000553490.5:c.295T>C ENSP00000451180.1:p.Cys99Arg
ENST00000554482.1:c.158+1846T>C ENSP00000451314.1:n.158+1846T>C
ENST00000555592.1:c.295T>C ENSP00000450887.1:p.Cys99Arg
ENST00000555619.5:c.295T>C ENSP00000451112.1:p.Cys99Arg
ENST00000556009.5:c.360T>C
ENST00000557510.5:c.295T>C ENSP00000451206.1:p.Cys99Arg
NM_006432.3:c.295T>C NP_006423.1:p.Cys99Arg
NM_001363688.1:c.295T>C NP_001350617.1:p.Cys99Arg
NM_006432.4:c.295T>C NP_006423.1:p.Cys99Arg
NM_001375440.1:c.295T>C NP_001362369.1:p.Cys99Arg
NM_006432.5:c.295T>C MANE Select NP_006423.1:p.Cys99Arg
Search 100 bp 5'
Search 100 bp 3'