Canonical Allele Identifier: CA390531874
Gene: NPC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74480751T>A , CM000676.2:g.74480751T>A GRCh38
NC_000014.8:g.74947454T>A , CM000676.1:g.74947454T>A GRCh37
NC_000014.7:g.74017207T>A NCBI36
NG_007117.1:g.17631A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555619.6:c.392A>T MANE Select ENSP00000451112.2:p.Gln131Leu
ENST00000238633.6:c.392A>T ENSP00000238633.2:p.Gln131Leu
ENST00000434013.6:c.392A>T ENSP00000412103.2:p.Gln131Leu
ENST00000541064.5:c.364-463A>T ENSP00000442488.1:n.364-463A>T
ENST00000553490.5:c.392A>T ENSP00000451180.1:p.Gln131Leu
ENST00000554482.1:c.187A>T ENSP00000451314.1:n.187A>T
ENST00000555619.5:c.392A>T ENSP00000451112.1:p.Gln131Leu
ENST00000556009.5:c.457A>T
ENST00000557510.5:c.392A>T ENSP00000451206.1:p.Gln131Leu
NM_006432.3:c.392A>T NP_006423.1:p.Gln131Leu
NM_001363688.1:c.392A>T NP_001350617.1:p.Gln131Leu
NM_006432.4:c.392A>T NP_006423.1:p.Gln131Leu
NM_001375440.1:c.364-463A>T NP_001362369.1:n.364-463A>T
NM_006432.5:c.392A>T MANE Select NP_006423.1:p.Gln131Leu