Canonical Allele Identifier: CA254414
Gene: NPC2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8486
ClinVar RCV Id: RCV000009007
dbSNP Id: rs104894458

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74484420G>A , CM000676.2:g.74484420G>A GRCh38
NC_000014.8:g.74951123G>A , CM000676.1:g.74951123G>A GRCh37
NC_000014.7:g.74020876G>A NCBI36
NG_007117.1:g.13962C>T

Transcript Alleles

HGVS Amino-acid change
NM_006432.3:c.358C>T VV NP_006423.1:p.Pro120Ser
NM_001363688.1:c.358C>T VV NP_001350617.1:p.Pro120Ser
NM_006432.4:c.358C>T VV
ENST00000238633.6:c.358C>T ENSP00000238633.2:p.Pro120Ser
ENST00000434013.6:c.358C>T ENSP00000412103.2:p.Pro120Ser
ENST00000541064.5:c.358C>T ENSP00000442488.1:p.Pro120Ser
ENST00000553490.5:c.358C>T ENSP00000451180.1:p.Pro120Ser
ENST00000554482.1:n.158+1909C>T ENSP00000451314.1:p.=
ENST00000555592.1:c.358C>T ENSP00000450887.1:p.Pro120Ser
ENST00000555619.5:c.358C>T ENSP00000451112.1:p.Pro120Ser
ENST00000556009.5:n.423C>T
ENST00000557510.5:c.358C>T ENSP00000451206.1:p.Pro120Ser