Canonical Allele Identifier: CA390531590

Gene: NPC2

Linked Data

• MyVariant Identifiers: chr14:g.74947415G>A (hg19) ; chr14:g.74480712G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74480712G>A , CM000676.2:g.74480712G>A	GRCh38
NC_000014.8:g.74947415G>A , CM000676.1:g.74947415G>A	GRCh37
NC_000014.7:g.74017168G>A	NCBI36
NG_007117.1:g.17670C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.431C>T MANE Select	ENSP00000451112.2:p.Pro144Leu
ENST00000238633.6:c.431C>T	ENSP00000238633.2:p.Pro144Leu
ENST00000434013.6:c.431C>T	ENSP00000412103.2:p.Pro144Leu
ENST00000541064.5:c.364-424C>T	ENSP00000442488.1:n.364-424C>T
ENST00000553490.5:c.431C>T	ENSP00000451180.1:p.Pro144Leu
ENST00000554482.1:c.226C>T	ENSP00000451314.1:n.226C>T
ENST00000555619.5:c.431C>T	ENSP00000451112.1:p.Pro144Leu
ENST00000556009.5:c.496C>T
ENST00000557510.5:c.431C>T	ENSP00000451206.1:p.Pro144Leu
NM_006432.3:c.431C>T	NP_006423.1:p.Pro144Leu
NM_001363688.1:c.431C>T	NP_001350617.1:p.Pro144Leu
NM_006432.4:c.431C>T	NP_006423.1:p.Pro144Leu
NM_001375440.1:c.364-424C>T	NP_001362369.1:n.364-424C>T
NM_006432.5:c.431C>T MANE Select	NP_006423.1:p.Pro144Leu