Canonical Allele Identifier: CA487153992

Gene: NPC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493236G>C , CM000676.2:g.74493236G>C	GRCh38
NC_000014.8:g.74959939G>C , CM000676.1:g.74959939G>C	GRCh37
NC_000014.7:g.74029692G>C	NCBI36
NG_007117.1:g.5146C>G
NG_033074.1:g.4517G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.39C>G MANE Select	ENSP00000451112.2:p.Leu13=
ENST00000238633.6:c.39C>G	ENSP00000238633.2:p.Leu13=
ENST00000434013.6:c.39C>G	ENSP00000412103.2:p.Leu13=
ENST00000541064.5:c.39C>G	ENSP00000442488.1:p.Leu13=
ENST00000553490.5:c.39C>G	ENSP00000451180.1:p.Leu13=
ENST00000554482.1:c.7C>G	ENSP00000451314.1:p.Gln3Glu
ENST00000555592.1:c.39C>G	ENSP00000450887.1:p.Leu13=
ENST00000555619.5:c.39C>G	ENSP00000451112.1:p.Leu13=
ENST00000556009.5:c.147+795C>G
ENST00000557510.5:c.39C>G	ENSP00000451206.1:p.Leu13=
NM_006432.3:c.39C>G	NP_006423.1:p.Leu13=
NM_001363688.1:c.39C>G	NP_001350617.1:p.Leu13=
NM_006432.4:c.39C>G	NP_006423.1:p.Leu13=
NM_001375440.1:c.39C>G	NP_001362369.1:p.Leu13=
NM_006432.5:c.39C>G MANE Select	NP_006423.1:p.Leu13=