Canonical Allele Identifier: CA2147059259

Gene: NPC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74480620A= , CM000676.2:g.74480620A=	GRCh38
NC_000014.8:g.74947323A= , CM000676.1:g.74947323A=	GRCh37
NC_000014.7:g.74017076A=	NCBI36
NG_007117.1:g.17762T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.441+82T= MANE Select	ENSP00000451112.2:n.441+82T=
ENST00000238633.6:c.432+91T=	ENSP00000238633.2:n.432+91T=
ENST00000434013.6:c.441+82T=	ENSP00000412103.2:n.441+82T=
ENST00000541064.5:c.364-332T=	ENSP00000442488.1:n.364-332T=
ENST00000553490.5:c.457+66T=	ENSP00000451180.1:n.457+66T=
ENST00000554482.1:c.236+82T=	ENSP00000451314.1:n.236+82T=
ENST00000555619.5:c.441+82T=	ENSP00000451112.1:n.441+82T=
ENST00000556009.5:c.506+82T=
ENST00000557510.5:c.523T=	ENSP00000451206.1:p.Ter175=
NM_006432.3:c.441+82T=	NP_006423.1:n.441+82T=
NM_001363688.1:c.523T=	NP_001350617.1:p.Ter175=
NM_006432.4:c.441+82T=	NP_006423.1:n.441+82T=
NM_001375440.1:c.364-332T=	NP_001362369.1:n.364-332T=
NM_006432.5:c.441+82T= MANE Select	NP_006423.1:n.441+82T=