Canonical Allele Identifier: CA2625667091

Gene: NPC2

Linked Data

• gnomAD v4: 14-74493182-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493182C>G , CM000676.2:g.74493182C>G	GRCh38
NC_000014.8:g.74959885C>G , CM000676.1:g.74959885C>G	GRCh37
NC_000014.7:g.74029638C>G	NCBI36
NG_007117.1:g.5200G>C
NG_033074.1:g.4463C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.82+11G>C MANE Select	ENSP00000451112.2:n.82+11G>C
ENST00000238633.6:c.82+11G>C	ENSP00000238633.2:n.82+11G>C
ENST00000434013.6:c.82+11G>C	ENSP00000412103.2:n.82+11G>C
ENST00000541064.5:c.82+11G>C	ENSP00000442488.1:n.82+11G>C
ENST00000553490.5:c.82+11G>C	ENSP00000451180.1:n.82+11G>C
ENST00000554482.1:c.50+11G>C	ENSP00000451314.1:n.50+11G>C
ENST00000555592.1:c.82+11G>C	ENSP00000450887.1:n.82+11G>C
ENST00000555619.5:c.82+11G>C	ENSP00000451112.1:n.82+11G>C
ENST00000556009.5:c.147+849G>C
ENST00000557510.5:c.82+11G>C	ENSP00000451206.1:n.82+11G>C
NM_006432.3:c.82+11G>C	NP_006423.1:n.82+11G>C
NM_001363688.1:c.82+11G>C	NP_001350617.1:n.82+11G>C
NM_006432.4:c.82+11G>C	NP_006423.1:n.82+11G>C
NM_001375440.1:c.82+11G>C	NP_001362369.1:n.82+11G>C
NM_006432.5:c.82+11G>C MANE Select	NP_006423.1:n.82+11G>C