Canonical Allele Identifier: CA390532384

Gene: NPC2

Linked Data

• ClinVar Variation Id: 1332736
• ClinVar RCV Id: RCV001806310
• dbSNP Id: rs2086687936
• MyVariant Identifiers: chr14:g.74951184G>C (hg19) ; chr14:g.74484481G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74484481G>C , CM000676.2:g.74484481G>C	GRCh38
NC_000014.8:g.74951184G>C , CM000676.1:g.74951184G>C	GRCh37
NC_000014.7:g.74020937G>C	NCBI36
NG_007117.1:g.13901C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000555619.6:c.297C>G MANE Select	ENSP00000451112.2:p.Cys99Trp
ENST00000238633.6:c.297C>G	ENSP00000238633.2:p.Cys99Trp
ENST00000434013.6:c.297C>G	ENSP00000412103.2:p.Cys99Trp
ENST00000541064.5:c.297C>G	ENSP00000442488.1:p.Cys99Trp
ENST00000553490.5:c.297C>G	ENSP00000451180.1:p.Cys99Trp
ENST00000554482.1:c.158+1848C>G	ENSP00000451314.1:n.158+1848C>G
ENST00000555592.1:c.297C>G	ENSP00000450887.1:p.Cys99Trp
ENST00000555619.5:c.297C>G	ENSP00000451112.1:p.Cys99Trp
ENST00000556009.5:c.362C>G
ENST00000557510.5:c.297C>G	ENSP00000451206.1:p.Cys99Trp
NM_006432.3:c.297C>G	NP_006423.1:p.Cys99Trp
NM_001363688.1:c.297C>G	NP_001350617.1:p.Cys99Trp
NM_006432.4:c.297C>G	NP_006423.1:p.Cys99Trp
NM_001375440.1:c.297C>G	NP_001362369.1:p.Cys99Trp
NM_006432.5:c.297C>G MANE Select	NP_006423.1:p.Cys99Trp