Canonical Allele Identifier: CA390531128
Gene: NPC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74480649C>A , CM000676.2:g.74480649C>A GRCh38
NC_000014.8:g.74947352C>A , CM000676.1:g.74947352C>A GRCh37
NC_000014.7:g.74017105C>A NCBI36
NG_007117.1:g.17733G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555619.6:c.441+53G>T MANE Select ENSP00000451112.2:n.441+53G>T
ENST00000238633.6:c.432+62G>T ENSP00000238633.2:n.432+62G>T
ENST00000434013.6:c.441+53G>T ENSP00000412103.2:n.441+53G>T
ENST00000541064.5:c.364-361G>T ENSP00000442488.1:n.364-361G>T
ENST00000553490.5:c.457+37G>T ENSP00000451180.1:n.457+37G>T
ENST00000554482.1:c.236+53G>T ENSP00000451314.1:n.236+53G>T
ENST00000555619.5:c.441+53G>T ENSP00000451112.1:n.441+53G>T
ENST00000556009.5:c.506+53G>T
ENST00000557510.5:c.494G>T ENSP00000451206.1:p.Arg165Ile
NM_006432.3:c.441+53G>T NP_006423.1:n.441+53G>T
NM_001363688.1:c.494G>T NP_001350617.1:p.Arg165Ile
NM_006432.4:c.441+53G>T NP_006423.1:n.441+53G>T
NM_001375440.1:c.364-361G>T NP_001362369.1:n.364-361G>T
NM_006432.5:c.441+53G>T MANE Select NP_006423.1:n.441+53G>T