Canonical Allele Identifier: CA390531879

Gene: NPC2

Linked Data

• dbSNP Id: rs1199723791
• gnomAD v3: 14-74480752-G-T
• gnomAD v4: 14-74480752-G-T
• MyVariant Identifiers: chr14:g.74947455G>T (hg19) ; chr14:g.74480752G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74480752G>T , CM000676.2:g.74480752G>T	GRCh38
NC_000014.8:g.74947455G>T , CM000676.1:g.74947455G>T	GRCh37
NC_000014.7:g.74017208G>T	NCBI36
NG_007117.1:g.17630C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.391C>A MANE Select	ENSP00000451112.2:p.Gln131Lys
ENST00000238633.6:c.391C>A	ENSP00000238633.2:p.Gln131Lys
ENST00000434013.6:c.391C>A	ENSP00000412103.2:p.Gln131Lys
ENST00000541064.5:c.364-464C>A	ENSP00000442488.1:n.364-464C>A
ENST00000553490.5:c.391C>A	ENSP00000451180.1:p.Gln131Lys
ENST00000554482.1:c.186C>A	ENSP00000451314.1:n.186C>A
ENST00000555619.5:c.391C>A	ENSP00000451112.1:p.Gln131Lys
ENST00000556009.5:c.456C>A
ENST00000557510.5:c.391C>A	ENSP00000451206.1:p.Gln131Lys
NM_006432.3:c.391C>A	NP_006423.1:p.Gln131Lys
NM_001363688.1:c.391C>A	NP_001350617.1:p.Gln131Lys
NM_006432.4:c.391C>A	NP_006423.1:p.Gln131Lys
NM_001375440.1:c.364-464C>A	NP_001362369.1:n.364-464C>A
NM_006432.5:c.391C>A MANE Select	NP_006423.1:p.Gln131Lys