Canonical Allele Identifier: CA254412
Gene: NPC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 8485
ClinVar RCV Id: RCV000009006
dbSNP Id: rs104894457

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74480707G>A , CM000676.2:g.74480707G>A GRCh38
NC_000014.8:g.74947410G>A , CM000676.1:g.74947410G>A GRCh37
NC_000014.7:g.74017163G>A NCBI36
NG_007117.1:g.17675C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000238633.6:c.432+4C>T ENSP00000238633.2:p.=
ENST00000434013.6:c.436C>T ENSP00000412103.2:p.Gln146Ter
ENST00000541064.5:c.364-419C>T ENSP00000442488.1:p.=
ENST00000553490.5:c.436C>T ENSP00000451180.1:p.Gln146Ter
ENST00000554482.1:n.231C>T ENSP00000451314.1:p.=
ENST00000555619.5:c.436C>T ENSP00000451112.1:p.Gln146Ter
ENST00000557510.5:c.436C>T ENSP00000451206.1:p.Gln146Ter
NM_006432.3:c.436C>T NP_006423.1:p.Gln146Ter
NM_001363688.1:c.436C>T NP_001350617.1:p.Gln146Ter
NM_006432.4:c.436C>T NP_006423.1:p.Gln146Ter
NM_001375440.1:c.364-419C>T NP_001362369.1:p.=
NM_006432.5:c.436C>T MANE Select NP_006423.1:p.Gln146Ter