Canonical Allele Identifier: CA390530990
Gene: NPC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74480632T>G , CM000676.2:g.74480632T>G GRCh38
NC_000014.8:g.74947335T>G , CM000676.1:g.74947335T>G GRCh37
NC_000014.7:g.74017088T>G NCBI36
NG_007117.1:g.17750A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000555619.6:c.441+70A>C MANE Select ENSP00000451112.2:n.441+70A>C
ENST00000238633.6:c.432+79A>C ENSP00000238633.2:n.432+79A>C
ENST00000434013.6:c.441+70A>C ENSP00000412103.2:n.441+70A>C
ENST00000541064.5:c.364-344A>C ENSP00000442488.1:n.364-344A>C
ENST00000553490.5:c.457+54A>C ENSP00000451180.1:n.457+54A>C
ENST00000554482.1:c.236+70A>C ENSP00000451314.1:n.236+70A>C
ENST00000555619.5:c.441+70A>C ENSP00000451112.1:n.441+70A>C
ENST00000556009.5:c.506+70A>C
ENST00000557510.5:c.511A>C ENSP00000451206.1:p.Lys171Gln
NM_006432.3:c.441+70A>C NP_006423.1:n.441+70A>C
NM_001363688.1:c.511A>C NP_001350617.1:p.Lys171Gln
NM_006432.4:c.441+70A>C NP_006423.1:n.441+70A>C
NM_001375440.1:c.364-344A>C NP_001362369.1:n.364-344A>C
NM_006432.5:c.441+70A>C MANE Select NP_006423.1:n.441+70A>C