Canonical Allele Identifier: CA2147066197
Gene: NPC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74484369A= , CM000676.2:g.74484369A= GRCh38
NC_000014.8:g.74951072A= , CM000676.1:g.74951072A= GRCh37
NC_000014.7:g.74020825A= NCBI36
NG_007117.1:g.14013T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000555619.6:c.363+46T= MANE Select ENSP00000451112.2:n.363+46T=
ENST00000238633.6:c.363+46T= ENSP00000238633.2:n.363+46T=
ENST00000434013.6:c.363+46T= ENSP00000412103.2:n.363+46T=
ENST00000541064.5:c.363+46T= ENSP00000442488.1:n.363+46T=
ENST00000553490.5:c.363+46T= ENSP00000451180.1:n.363+46T=
ENST00000554482.1:c.158+1960T= ENSP00000451314.1:n.158+1960T=
ENST00000555619.5:c.363+46T= ENSP00000451112.1:n.363+46T=
ENST00000556009.5:c.428+46T=
ENST00000557510.5:c.363+46T= ENSP00000451206.1:n.363+46T=
NM_006432.3:c.363+46T= NP_006423.1:n.363+46T=
NM_001363688.1:c.363+46T= NP_001350617.1:n.363+46T=
NM_006432.4:c.363+46T= NP_006423.1:n.363+46T=
NM_001375440.1:c.363+46T= NP_001362369.1:n.363+46T=
NM_006432.5:c.363+46T= MANE Select NP_006423.1:n.363+46T=