Canonical Allele Identifier: CA390376895

Gene: NPC2

Linked Data

• dbSNP Id: rs2086796595
• gnomAD v4: 14-74493251-G-C
• MyVariant Identifiers: chr14:g.74959954G>C (hg19) ; chr14:g.74493251G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493251G>C , CM000676.2:g.74493251G>C	GRCh38
NC_000014.8:g.74959954G>C , CM000676.1:g.74959954G>C	GRCh37
NC_000014.7:g.74029707G>C	NCBI36
NG_007117.1:g.5131C>G
NG_033074.1:g.4532G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000555619.6:c.24C>G MANE Select	ENSP00000451112.2:p.Phe8Leu
ENST00000238633.6:c.24C>G	ENSP00000238633.2:p.Phe8Leu
ENST00000434013.6:c.24C>G	ENSP00000412103.2:p.Phe8Leu
ENST00000541064.5:c.24C>G	ENSP00000442488.1:p.Phe8Leu
ENST00000553490.5:c.24C>G	ENSP00000451180.1:p.Phe8Leu
ENST00000555592.1:c.24C>G	ENSP00000450887.1:p.Phe8Leu
ENST00000555619.5:c.24C>G	ENSP00000451112.1:p.Phe8Leu
ENST00000556009.5:c.147+780C>G
ENST00000557510.5:c.24C>G	ENSP00000451206.1:p.Phe8Leu
NM_006432.3:c.24C>G	NP_006423.1:p.Phe8Leu
NM_001363688.1:c.24C>G	NP_001350617.1:p.Phe8Leu
NM_006432.4:c.24C>G	NP_006423.1:p.Phe8Leu
NM_001375440.1:c.24C>G	NP_001362369.1:p.Phe8Leu
NM_006432.5:c.24C>G MANE Select	NP_006423.1:p.Phe8Leu