Canonical Allele Identifier: CA390531952

Gene: NPC2

Linked Data

• ClinVar Variation Id: 2498596
• ClinVar RCV Id: RCV003222805
• gnomAD v4: 14-74480770-C-G
• MyVariant Identifiers: chr14:g.74947473C>G (hg19) ; chr14:g.74480770C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74480770C>G , CM000676.2:g.74480770C>G	GRCh38
NC_000014.8:g.74947473C>G , CM000676.1:g.74947473C>G	GRCh37
NC_000014.7:g.74017226C>G	NCBI36
NG_007117.1:g.17612G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.373G>C MANE Select	ENSP00000451112.2:p.Val125Leu
ENST00000238633.6:c.373G>C	ENSP00000238633.2:p.Val125Leu
ENST00000434013.6:c.373G>C	ENSP00000412103.2:p.Val125Leu
ENST00000541064.5:c.364-482G>C	ENSP00000442488.1:n.364-482G>C
ENST00000553490.5:c.373G>C	ENSP00000451180.1:p.Val125Leu
ENST00000554482.1:c.168G>C	ENSP00000451314.1:n.168G>C
ENST00000555619.5:c.373G>C	ENSP00000451112.1:p.Val125Leu
ENST00000556009.5:c.438G>C
ENST00000557510.5:c.373G>C	ENSP00000451206.1:p.Val125Leu
NM_006432.3:c.373G>C	NP_006423.1:p.Val125Leu
NM_001363688.1:c.373G>C	NP_001350617.1:p.Val125Leu
NM_006432.4:c.373G>C	NP_006423.1:p.Val125Leu
NM_001375440.1:c.364-482G>C	NP_001362369.1:n.364-482G>C
NM_006432.5:c.373G>C MANE Select	NP_006423.1:p.Val125Leu