Canonical Allele Identifier: CA7268212

Gene: NPC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493217C>T , CM000676.2:g.74493217C>T	GRCh38
NC_000014.8:g.74959920C>T , CM000676.1:g.74959920C>T	GRCh37
NC_000014.7:g.74029673C>T	NCBI36
NG_007117.1:g.5165G>A
NG_033074.1:g.4498C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006432.5:c.58G>A MANE Select	NP_006423.1:p.Glu20Lys
ENST00000555619.6:c.58G>A MANE Select	ENSP00000451112.2:p.Glu20Lys
NM_001363688.1:c.58G>A	NP_001350617.1:p.Glu20Lys
NM_001375440.1:c.58G>A	NP_001362369.1:p.Glu20Lys
NM_006432.3:c.58G>A	NP_006423.1:p.Glu20Lys
NM_006432.4:c.58G>A	NP_006423.1:p.Glu20Lys
ENST00000238633.6:c.58G>A	ENSP00000238633.2:p.Glu20Lys
ENST00000434013.6:c.58G>A	ENSP00000412103.2:p.Glu20Lys
ENST00000541064.5:c.58G>A	ENSP00000442488.1:p.Glu20Lys
ENST00000553490.5:c.58G>A	ENSP00000451180.1:p.Glu20Lys
ENST00000554482.1:c.26G>A	ENSP00000451314.1:p.Arg9Gln
ENST00000555592.1:c.58G>A	ENSP00000450887.1:p.Glu20Lys
ENST00000555619.5:c.58G>A	ENSP00000451112.1:p.Glu20Lys
ENST00000556009.5:c.147+814G>A
ENST00000557510.5:c.58G>A	ENSP00000451206.1:p.Glu20Lys