Canonical Allele Identifier: CA263658477

Gene: NPC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74480277G>A , CM000676.2:g.74480277G>A	GRCh38
NC_000014.8:g.74946980G>A , CM000676.1:g.74946980G>A	GRCh37
NC_000014.7:g.74016733G>A	NCBI36
NG_007117.1:g.18105C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.453C>T MANE Select	ENSP00000451112.2:p.Leu151=
ENST00000238633.6:c.444C>T	ENSP00000238633.2:p.Leu148=
ENST00000434013.6:c.441+425C>T	ENSP00000412103.2:n.441+425C>T
ENST00000541064.5:c.375C>T	ENSP00000442488.1:p.Leu125=
ENST00000553490.5:c.469C>T	ENSP00000451180.1:p.Leu157=
ENST00000554482.1:c.248C>T	ENSP00000451314.1:n.248C>T
ENST00000555619.5:c.453C>T	ENSP00000451112.1:p.Leu151=
ENST00000556009.5:c.518C>T
ENST00000557510.5:c.*341C>T	ENSP00000451206.1:n.*341C>T
NM_006432.3:c.453C>T	NP_006423.1:p.Leu151=
NM_001363688.1:c.*341C>T	NP_001350617.1:n.*341C>T
NM_006432.4:c.453C>T	NP_006423.1:p.Leu151=
NM_001375440.1:c.375C>T	NP_001362369.1:p.Leu125=
NM_006432.5:c.453C>T MANE Select	NP_006423.1:p.Leu151=