Canonical Allele Identifier: CA234414

Gene: NPC2

Linked Data

• ClinVar Variation Id: 100734
• ClinVar RCV Id: RCV000087100 ; RCV000153589 ; RCV001121868 ; RCV003935083 ; RCV002281928
• dbSNP Id: rs140130028
• ExAC: 14:74947404 C / T
• gnomAD v2: 14-74947404-C-T
• gnomAD v3: 14-74480701-C-T
• gnomAD v4: 14-74480701-C-T
• MyVariant Identifiers: chr14:g.74947404C>T (hg19) ; chr14:g.74480701C>T (hg38)
• PubMed: PMID:23352160 ; PMID:23773996 ; PMID:23891399 ; PMID:24767253 ; PMID:25764212

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