Canonical Allele Identifier: CA7268082

Gene: NPC2

Linked Data

• ClinVar Variation Id: 500152
• ClinVar RCV Id: RCV000593577
• dbSNP Id: rs760917535
• ExAC: 14:74946975 A / C
• gnomAD v2: 14-74946975-A-C
• gnomAD v4: 14-74480272-A-C
• MyVariant Identifiers: chr14:g.74946975A>C (hg19) ; chr14:g.74480272A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74480272A>C , CM000676.2:g.74480272A>C	GRCh38
NC_000014.8:g.74946975A>C , CM000676.1:g.74946975A>C	GRCh37
NC_000014.7:g.74016728A>C	NCBI36
NG_007117.1:g.18110T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.*2T>G MANE Select	ENSP00000451112.2:n.*2T>G
ENST00000238633.6:c.*2T>G	ENSP00000238633.2:n.*2T>G
ENST00000434013.6:c.441+430T>G	ENSP00000412103.2:n.441+430T>G
ENST00000541064.5:c.*2T>G	ENSP00000442488.1:n.*2T>G
ENST00000553490.5:c.474T>G	ENSP00000451180.1:p.Ser158Arg
ENST00000554482.1:c.253T>G	ENSP00000451314.1:n.253T>G
ENST00000555619.5:c.*2T>G	ENSP00000451112.1:n.*2T>G
ENST00000556009.5:c.523T>G
ENST00000557510.5:c.*346T>G	ENSP00000451206.1:n.*346T>G
NM_006432.3:c.*2T>G	NP_006423.1:n.*2T>G
NM_001363688.1:c.*346T>G	NP_001350617.1:n.*346T>G
NM_006432.4:c.*2T>G	NP_006423.1:n.*2T>G
NM_001375440.1:c.*2T>G	NP_001362369.1:n.*2T>G
NM_006432.5:c.*2T>G MANE Select	NP_006423.1:n.*2T>G