Canonical Allele Identifier: CA2580088711

Gene: NPC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74480298T>C , CM000676.2:g.74480298T>C	GRCh38
NC_000014.8:g.74947001T>C , CM000676.1:g.74947001T>C	GRCh37
NC_000014.7:g.74016754T>C	NCBI36
NG_007117.1:g.18084A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.442-10A>G MANE Select	ENSP00000451112.2:n.442-10A>G
ENST00000238633.6:c.433-10A>G	ENSP00000238633.2:n.433-10A>G
ENST00000434013.6:c.441+404A>G	ENSP00000412103.2:n.441+404A>G
ENST00000541064.5:c.364-10A>G	ENSP00000442488.1:n.364-10A>G
ENST00000553490.5:c.458-10A>G	ENSP00000451180.1:n.458-10A>G
ENST00000554482.1:c.237-10A>G	ENSP00000451314.1:n.237-10A>G
ENST00000555619.5:c.442-10A>G	ENSP00000451112.1:n.442-10A>G
ENST00000556009.5:c.507-10A>G
ENST00000557510.5:c.*320A>G	ENSP00000451206.1:n.*320A>G
NM_006432.3:c.442-10A>G	NP_006423.1:n.442-10A>G
NM_001363688.1:c.*320A>G	NP_001350617.1:n.*320A>G
NM_006432.4:c.442-10A>G	NP_006423.1:n.442-10A>G
NM_001375440.1:c.364-10A>G	NP_001362369.1:n.364-10A>G
NM_006432.5:c.442-10A>G MANE Select	NP_006423.1:n.442-10A>G