Canonical Allele Identifier: CA708507881
Gene: NPC2 HGNC NCBI

Linked Data

dbSNP Id: rs1405894366

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493505C>T , CM000676.2:g.74493505C>T GRCh38
NC_000014.8:g.74960208C>T , CM000676.1:g.74960208C>T GRCh37
NC_000014.7:g.74029961C>T NCBI36
NG_007117.1:g.4877G>A
NG_033074.1:g.4786C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+65G>A ENSP00000450887.1:n.-64+65G>A
ENST00000555619.5:c.-231G>A ENSP00000451112.1:n.-231G>A
ENST00000556009.5:c.147+526G>A
NM_001363688.1:c.-231G>A NP_001350617.1:n.-231G>A
NM_006432.4:c.-231G>A NP_006423.1:n.-231G>A