Canonical Allele Identifier: CA2625666540

Gene: NPC2

Linked Data

• ClinVar Variation Id: 2761852
• ClinVar RCV Id: RCV003510166
• gnomAD v4: 14-74480799-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74480799A>G , CM000676.2:g.74480799A>G	GRCh38
NC_000014.8:g.74947502A>G , CM000676.1:g.74947502A>G	GRCh37
NC_000014.7:g.74017255A>G	NCBI36
NG_007117.1:g.17583T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.364-20T>C MANE Select	ENSP00000451112.2:n.364-20T>C
ENST00000238633.6:c.364-20T>C	ENSP00000238633.2:n.364-20T>C
ENST00000434013.6:c.364-20T>C	ENSP00000412103.2:n.364-20T>C
ENST00000541064.5:c.364-511T>C	ENSP00000442488.1:n.364-511T>C
ENST00000553490.5:c.364-20T>C	ENSP00000451180.1:n.364-20T>C
ENST00000554482.1:c.159-20T>C	ENSP00000451314.1:n.159-20T>C
ENST00000555619.5:c.364-20T>C	ENSP00000451112.1:n.364-20T>C
ENST00000556009.5:c.429-20T>C
ENST00000557510.5:c.364-20T>C	ENSP00000451206.1:n.364-20T>C
NM_006432.3:c.364-20T>C	NP_006423.1:n.364-20T>C
NM_001363688.1:c.364-20T>C	NP_001350617.1:n.364-20T>C
NM_006432.4:c.364-20T>C	NP_006423.1:n.364-20T>C
NM_001375440.1:c.364-511T>C	NP_001362369.1:n.364-511T>C
NM_006432.5:c.364-20T>C MANE Select	NP_006423.1:n.364-20T>C