Canonical Allele Identifier: CA2575576688

Gene: NPC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493431A>C , CM000676.2:g.74493431A>C	GRCh38
NC_000014.8:g.74960134A>C , CM000676.1:g.74960134A>C	GRCh37
NC_000014.7:g.74029887A>C	NCBI36
NG_007117.1:g.4951T>G
NG_033074.1:g.4712A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555592.1:c.-63-94T>G	ENSP00000450887.1:n.-63-94T>G
ENST00000555619.5:c.-157T>G	ENSP00000451112.1:n.-157T>G
ENST00000556009.5:c.147+600T>G
NM_001363688.1:c.-157T>G	NP_001350617.1:n.-157T>G
NM_006432.4:c.-157T>G	NP_006423.1:n.-157T>G