Canonical Allele Identifier: CA390532608

Gene: NPC2

Linked Data

• ClinVar Variation Id: 1468682
• ClinVar RCV Id: RCV001970713
• dbSNP Id: rs1391222276
• gnomAD v3: 14-74484587-T-A
• gnomAD v4: 14-74484587-T-A
• MyVariant Identifiers: chr14:g.74951290T>A (hg19) ; chr14:g.74484587T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74484587T>A , CM000676.2:g.74484587T>A	GRCh38
NC_000014.8:g.74951290T>A , CM000676.1:g.74951290T>A	GRCh37
NC_000014.7:g.74021043T>A	NCBI36
NG_007117.1:g.13795A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000555619.6:c.191A>T MANE Select	ENSP00000451112.2:p.Asn64Ile
ENST00000238633.6:c.191A>T	ENSP00000238633.2:p.Asn64Ile
ENST00000434013.6:c.191A>T	ENSP00000412103.2:p.Asn64Ile
ENST00000541064.5:c.191A>T	ENSP00000442488.1:p.Asn64Ile
ENST00000553490.5:c.191A>T	ENSP00000451180.1:p.Asn64Ile
ENST00000554482.1:c.158+1742A>T	ENSP00000451314.1:n.158+1742A>T
ENST00000555592.1:c.191A>T	ENSP00000450887.1:p.Asn64Ile
ENST00000555619.5:c.191A>T	ENSP00000451112.1:p.Asn64Ile
ENST00000556009.5:c.256A>T
ENST00000557510.5:c.191A>T	ENSP00000451206.1:p.Asn64Ile
NM_006432.3:c.191A>T	NP_006423.1:p.Asn64Ile
NM_001363688.1:c.191A>T	NP_001350617.1:p.Asn64Ile
NM_006432.4:c.191A>T	NP_006423.1:p.Asn64Ile
NM_001375440.1:c.191A>T	NP_001362369.1:p.Asn64Ile
NM_006432.5:c.191A>T MANE Select	NP_006423.1:p.Asn64Ile