Canonical Allele Identifier: CA7268085

Gene: NPC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74480280A>G , CM000676.2:g.74480280A>G	GRCh38
NC_000014.8:g.74946983A>G , CM000676.1:g.74946983A>G	GRCh37
NC_000014.7:g.74016736A>G	NCBI36
NG_007117.1:g.18102T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006432.5:c.450T>C MANE Select	NP_006423.1:p.His150=
ENST00000555619.6:c.450T>C MANE Select	ENSP00000451112.2:p.His150=
NM_001363688.1:c.*338T>C	NP_001350617.1:n.*338T>C
NM_001375440.1:c.372T>C	NP_001362369.1:p.His124=
NM_006432.3:c.450T>C	NP_006423.1:p.His150=
NM_006432.4:c.450T>C	NP_006423.1:p.His150=
ENST00000238633.6:c.441T>C	ENSP00000238633.2:p.His147=
ENST00000434013.6:c.441+422T>C	ENSP00000412103.2:n.441+422T>C
ENST00000541064.5:c.372T>C	ENSP00000442488.1:p.His124=
ENST00000553490.5:c.466T>C	ENSP00000451180.1:p.Ser156Pro
ENST00000554482.1:c.245T>C	ENSP00000451314.1:n.245T>C
ENST00000555619.5:c.450T>C	ENSP00000451112.1:p.His150=
ENST00000556009.5:c.515T>C
ENST00000557510.5:c.*338T>C	ENSP00000451206.1:n.*338T>C