Canonical Allele Identifier: CA7268151

Gene: NPC2

Linked Data

• ClinVar Variation Id: 377030
• ClinVar RCV Id: RCV000439975 ; RCV000763943 ; RCV002524717 ; RCV003488586 ; RCV003912600
• dbSNP Id: rs142858704
• ExAC: 14:74951189 T / G
• gnomAD v2: 14-74951189-T-G
• gnomAD v3: 14-74484486-T-G
• gnomAD v4: 14-74484486-T-G
• MyVariant Identifiers: chr14:g.74951189T>G (hg19) ; chr14:g.74484486T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74484486T>G , CM000676.2:g.74484486T>G	GRCh38
NC_000014.8:g.74951189T>G , CM000676.1:g.74951189T>G	GRCh37
NC_000014.7:g.74020942T>G	NCBI36
NG_007117.1:g.13896A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000555619.6:c.292A>C MANE Select	ENSP00000451112.2:p.Asn98His
ENST00000238633.6:c.292A>C	ENSP00000238633.2:p.Asn98His
ENST00000434013.6:c.292A>C	ENSP00000412103.2:p.Asn98His
ENST00000541064.5:c.292A>C	ENSP00000442488.1:p.Asn98His
ENST00000553490.5:c.292A>C	ENSP00000451180.1:p.Asn98His
ENST00000554482.1:c.158+1843A>C	ENSP00000451314.1:n.158+1843A>C
ENST00000555592.1:c.292A>C	ENSP00000450887.1:p.Asn98His
ENST00000555619.5:c.292A>C	ENSP00000451112.1:p.Asn98His
ENST00000556009.5:c.357A>C
ENST00000557510.5:c.292A>C	ENSP00000451206.1:p.Asn98His
NM_006432.3:c.292A>C	NP_006423.1:p.Asn98His
NM_001363688.1:c.292A>C	NP_001350617.1:p.Asn98His
NM_006432.4:c.292A>C	NP_006423.1:p.Asn98His
NM_001375440.1:c.292A>C	NP_001362369.1:p.Asn98His
NM_006432.5:c.292A>C MANE Select	NP_006423.1:p.Asn98His