Canonical Allele Identifier: CA2147069974

Gene: NPC2

Linked Data

• dbSNP Id: rs2086797969

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493292C>T , CM000676.2:g.74493292C>T	GRCh38
NC_000014.8:g.74959995C>T , CM000676.1:g.74959995C>T	GRCh37
NC_000014.7:g.74029748C>T	NCBI36
NG_007117.1:g.5090G>A
NG_033074.1:g.4573C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.-18G>A MANE Select	ENSP00000451112.2:n.-18G>A
ENST00000434013.6:c.-18G>A	ENSP00000412103.2:n.-18G>A
ENST00000553490.5:c.-18G>A	ENSP00000451180.1:n.-18G>A
ENST00000555592.1:c.-18G>A	ENSP00000450887.1:n.-18G>A
ENST00000555619.5:c.-18G>A	ENSP00000451112.1:n.-18G>A
ENST00000556009.5:c.147+739G>A
ENST00000557510.5:c.-18G>A	ENSP00000451206.1:n.-18G>A
NM_006432.3:c.-18G>A	NP_006423.1:n.-18G>A
NM_001363688.1:c.-18G>A	NP_001350617.1:n.-18G>A
NM_006432.4:c.-18G>A	NP_006423.1:n.-18G>A
NM_001375440.1:c.-18G>A	NP_001362369.1:n.-18G>A
NM_006432.5:c.-18G>A MANE Select	NP_006423.1:n.-18G>A