Canonical Allele Identifier: CA10635294
Gene: NPC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 314241
ClinVar RCV Id: RCV000351037
dbSNP Id: rs574247323
gnomAD v3: 14-74493363-C-T
gnomAD v4: 14-74493363-C-T
MyVariant Identifiers: chr14:g.74960066C>T (hg19) chr14:g.74493363C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493363C>T , CM000676.2:g.74493363C>T GRCh38
NC_000014.8:g.74960066C>T , CM000676.1:g.74960066C>T GRCh37
NC_000014.7:g.74029819C>T NCBI36
NG_007117.1:g.5019G>A
NG_033074.1:g.4644C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-63-26G>A ENSP00000450887.1:n.-63-26G>A
ENST00000555619.5:c.-89G>A ENSP00000451112.1:n.-89G>A
ENST00000556009.5:c.147+668G>A
NM_006432.3:c.-89G>A NP_006423.1:n.-89G>A
NM_001363688.1:c.-89G>A NP_001350617.1:n.-89G>A
NM_006432.4:c.-89G>A NP_006423.1:n.-89G>A
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