Canonical Allele Identifier: CA390531699

Gene: NPC2

Linked Data

• gnomAD v4: 14-74480724-C-T
• MyVariant Identifiers: chr14:g.74947427C>T (hg19) ; chr14:g.74480724C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74480724C>T , CM000676.2:g.74480724C>T	GRCh38
NC_000014.8:g.74947427C>T , CM000676.1:g.74947427C>T	GRCh37
NC_000014.7:g.74017180C>T	NCBI36
NG_007117.1:g.17658G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.419G>A MANE Select	ENSP00000451112.2:p.Cys140Tyr
ENST00000238633.6:c.419G>A	ENSP00000238633.2:p.Cys140Tyr
ENST00000434013.6:c.419G>A	ENSP00000412103.2:p.Cys140Tyr
ENST00000541064.5:c.364-436G>A	ENSP00000442488.1:n.364-436G>A
ENST00000553490.5:c.419G>A	ENSP00000451180.1:p.Cys140Tyr
ENST00000554482.1:c.214G>A	ENSP00000451314.1:n.214G>A
ENST00000555619.5:c.419G>A	ENSP00000451112.1:p.Cys140Tyr
ENST00000556009.5:c.484G>A
ENST00000557510.5:c.419G>A	ENSP00000451206.1:p.Cys140Tyr
NM_006432.3:c.419G>A	NP_006423.1:p.Cys140Tyr
NM_001363688.1:c.419G>A	NP_001350617.1:p.Cys140Tyr
NM_006432.4:c.419G>A	NP_006423.1:p.Cys140Tyr
NM_001375440.1:c.364-436G>A	NP_001362369.1:n.364-436G>A
NM_006432.5:c.419G>A MANE Select	NP_006423.1:p.Cys140Tyr