Canonical Allele Identifier: CA2580088724

Gene: NPC2

Linked Data

• ClinVar Variation Id: 2003115
• ClinVar RCV Id: RCV002833138
• gnomAD v4: 14-74484601-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74484601A>G , CM000676.2:g.74484601A>G	GRCh38
NC_000014.8:g.74951304A>G , CM000676.1:g.74951304A>G	GRCh37
NC_000014.7:g.74021057A>G	NCBI36
NG_007117.1:g.13781T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000555619.6:c.191-14T>C MANE Select	ENSP00000451112.2:n.191-14T>C
ENST00000238633.6:c.191-14T>C	ENSP00000238633.2:n.191-14T>C
ENST00000434013.6:c.191-14T>C	ENSP00000412103.2:n.191-14T>C
ENST00000541064.5:c.191-14T>C	ENSP00000442488.1:n.191-14T>C
ENST00000553490.5:c.191-14T>C	ENSP00000451180.1:n.191-14T>C
ENST00000554482.1:c.158+1728T>C	ENSP00000451314.1:n.158+1728T>C
ENST00000555592.1:c.191-14T>C	ENSP00000450887.1:n.191-14T>C
ENST00000555619.5:c.191-14T>C	ENSP00000451112.1:n.191-14T>C
ENST00000556009.5:c.256-14T>C
ENST00000557510.5:c.191-14T>C	ENSP00000451206.1:n.191-14T>C
NM_006432.3:c.191-14T>C	NP_006423.1:n.191-14T>C
NM_001363688.1:c.191-14T>C	NP_001350617.1:n.191-14T>C
NM_006432.4:c.191-14T>C	NP_006423.1:n.191-14T>C
NM_001375440.1:c.191-14T>C	NP_001362369.1:n.191-14T>C
NM_006432.5:c.191-14T>C MANE Select	NP_006423.1:n.191-14T>C