Canonical Allele Identifier: CA2147059274

Gene: NPC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74480634G= , CM000676.2:g.74480634G=	GRCh38
NC_000014.8:g.74947337G= , CM000676.1:g.74947337G=	GRCh37
NC_000014.7:g.74017090G=	NCBI36
NG_007117.1:g.17748C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.441+68C= MANE Select	ENSP00000451112.2:n.441+68C=
ENST00000238633.6:c.432+77C=	ENSP00000238633.2:n.432+77C=
ENST00000434013.6:c.441+68C=	ENSP00000412103.2:n.441+68C=
ENST00000541064.5:c.364-346C=	ENSP00000442488.1:n.364-346C=
ENST00000553490.5:c.457+52C=	ENSP00000451180.1:n.457+52C=
ENST00000554482.1:c.236+68C=	ENSP00000451314.1:n.236+68C=
ENST00000555619.5:c.441+68C=	ENSP00000451112.1:n.441+68C=
ENST00000556009.5:c.506+68C=
ENST00000557510.5:c.509C=	ENSP00000451206.1:p.Thr170=
NM_006432.3:c.441+68C=	NP_006423.1:n.441+68C=
NM_001363688.1:c.509C=	NP_001350617.1:p.Thr170=
NM_006432.4:c.441+68C=	NP_006423.1:n.441+68C=
NM_001375440.1:c.364-346C=	NP_001362369.1:n.364-346C=
NM_006432.5:c.441+68C= MANE Select	NP_006423.1:n.441+68C=