Canonical Allele Identifier: CA234414
Gene: NPC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 100734
dbSNP Id: rs140130028

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74480701C>T , CM000676.2:g.74480701C>T GRCh38
NC_000014.8:g.74947404C>T , CM000676.1:g.74947404C>T GRCh37
NC_000014.7:g.74017157C>T NCBI36
NG_007117.1:g.17681G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555619.6:c.441+1G>A MANE Select ENSP00000451112.2:n.441+1G>A
ENST00000238633.6:c.432+10G>A ENSP00000238633.2:n.432+10G>A
ENST00000434013.6:c.441+1G>A ENSP00000412103.2:n.441+1G>A
ENST00000541064.5:c.364-413G>A ENSP00000442488.1:n.364-413G>A
ENST00000553490.5:c.442G>A ENSP00000451180.1:p.Val148Ile
ENST00000554482.1:c.236+1G>A ENSP00000451314.1:n.236+1G>A
ENST00000555619.5:c.441+1G>A ENSP00000451112.1:n.441+1G>A
ENST00000556009.5:c.506+1G>A
ENST00000557510.5:c.442G>A ENSP00000451206.1:p.Val148Ile
NM_006432.3:c.441+1G>A NP_006423.1:n.441+1G>A
NM_001363688.1:c.442G>A NP_001350617.1:p.Val148Ile
NM_006432.4:c.441+1G>A NP_006423.1:n.441+1G>A
NM_001375440.1:c.364-413G>A NP_001362369.1:n.364-413G>A
NM_006432.5:c.441+1G>A MANE Select NP_006423.1:n.441+1G>A