Canonical Allele Identifier: CA2575576569

Gene: NPC2

Linked Data

• gnomAD v4: 14-74484323-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74484323C>T , CM000676.2:g.74484323C>T	GRCh38
NC_000014.8:g.74951026C>T , CM000676.1:g.74951026C>T	GRCh37
NC_000014.7:g.74020779C>T	NCBI36
NG_007117.1:g.14059G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.363+92G>A MANE Select	ENSP00000451112.2:n.363+92G>A
ENST00000238633.6:c.363+92G>A	ENSP00000238633.2:n.363+92G>A
ENST00000434013.6:c.363+92G>A	ENSP00000412103.2:n.363+92G>A
ENST00000541064.5:c.363+92G>A	ENSP00000442488.1:n.363+92G>A
ENST00000553490.5:c.363+92G>A	ENSP00000451180.1:n.363+92G>A
ENST00000554482.1:c.158+2006G>A	ENSP00000451314.1:n.158+2006G>A
ENST00000555619.5:c.363+92G>A	ENSP00000451112.1:n.363+92G>A
ENST00000556009.5:c.428+92G>A
ENST00000557510.5:c.363+92G>A	ENSP00000451206.1:n.363+92G>A
NM_006432.3:c.363+92G>A	NP_006423.1:n.363+92G>A
NM_001363688.1:c.363+92G>A	NP_001350617.1:n.363+92G>A
NM_006432.4:c.363+92G>A	NP_006423.1:n.363+92G>A
NM_001375440.1:c.363+92G>A	NP_001362369.1:n.363+92G>A
NM_006432.5:c.363+92G>A MANE Select	NP_006423.1:n.363+92G>A