Canonical Allele Identifier: CA2573150175

Gene: NPC2

Linked Data

• ClinVar Variation Id: 1457423
• ClinVar RCV Id: RCV001953743
• dbSNP Id: rs2139668010

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74484498dup , CM000676.2:g.74484498dup	GRCh38
NC_000014.8:g.74951201dup , CM000676.1:g.74951201dup	GRCh37
NC_000014.7:g.74020954dup	NCBI36
NG_007117.1:g.13885dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.281dup MANE Select	ENSP00000451112.2:p.Ser95GlufsTer4
ENST00000238633.6:c.281dup	ENSP00000238633.2:p.Ser95GlufsTer4
ENST00000434013.6:c.281dup	ENSP00000412103.2:p.Ser95GlufsTer4
ENST00000541064.5:c.281dup	ENSP00000442488.1:p.Ser95GlufsTer4
ENST00000553490.5:c.281dup	ENSP00000451180.1:p.Ser95GlufsTer4
ENST00000554482.1:c.158+1832dup	ENSP00000451314.1:n.158+1832dup
ENST00000555592.1:c.281dup	ENSP00000450887.1:p.Ser95GlufsTer4
ENST00000555619.5:c.281dup	ENSP00000451112.1:p.Ser95GlufsTer4
ENST00000556009.5:c.346dup
ENST00000557510.5:c.281dup	ENSP00000451206.1:p.Ser95GlufsTer4
NM_006432.3:c.281dup	NP_006423.1:p.Ser95GlufsTer4
NM_001363688.1:c.281dup	NP_001350617.1:p.Ser95GlufsTer4
NM_006432.4:c.281dup	NP_006423.1:p.Ser95GlufsTer4
NM_001375440.1:c.281dup	NP_001362369.1:p.Ser95GlufsTer4
NM_006432.5:c.281dup MANE Select	NP_006423.1:p.Ser95GlufsTer4