Canonical Allele Identifier: CA340793

Gene: NPC2

Linked Data

• ClinVar Variation Id: 8482
• ClinVar RCV Id: RCV000009003
• dbSNP Id: rs11694
• MyVariant Identifiers: chr14:g.74951282A>G (hg19) ; chr14:g.74484579A>G (hg38)
• PubMed: PMID:11567215 ; PMID:15937921 ; PMID:20301473

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74484579A>G , CM000676.2:g.74484579A>G	GRCh38
NC_000014.8:g.74951282A>G , CM000676.1:g.74951282A>G	GRCh37
NC_000014.7:g.74021035A>G	NCBI36
NG_007117.1:g.13803T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000555619.6:c.199T>C MANE Select	ENSP00000451112.2:p.Ser67Pro
ENST00000238633.6:c.199T>C	ENSP00000238633.2:p.Ser67Pro
ENST00000434013.6:c.199T>C	ENSP00000412103.2:p.Ser67Pro
ENST00000541064.5:c.199T>C	ENSP00000442488.1:p.Ser67Pro
ENST00000553490.5:c.199T>C	ENSP00000451180.1:p.Ser67Pro
ENST00000554482.1:c.158+1750T>C	ENSP00000451314.1:n.158+1750T>C
ENST00000555592.1:c.199T>C	ENSP00000450887.1:p.Ser67Pro
ENST00000555619.5:c.199T>C	ENSP00000451112.1:p.Ser67Pro
ENST00000556009.5:c.264T>C
ENST00000557510.5:c.199T>C	ENSP00000451206.1:p.Ser67Pro
NM_006432.3:c.199T>C	NP_006423.1:p.Ser67Pro
NM_001363688.1:c.199T>C	NP_001350617.1:p.Ser67Pro
NM_006432.4:c.199T>C	NP_006423.1:p.Ser67Pro
NM_001375440.1:c.199T>C	NP_001362369.1:p.Ser67Pro
NM_006432.5:c.199T>C MANE Select	NP_006423.1:p.Ser67Pro