Canonical Allele Identifier: CA340793
Gene: NPC2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8482
ClinVar RCV Id: RCV000009003
dbSNP Id: rs11694

User contributed link-outs

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
NM_006432.3:c.199T>C VV NP_006423.1:p.Ser67Pro
NM_001363688.1:c.199T>C VV NP_001350617.1:p.Ser67Pro
NM_006432.4:c.199T>C VV
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:n.158+1750T>C ENSP00000451314.1:p.=
ENST00000555592.1:c.199T>C ENSP00000450887.1:p.Ser67Pro
ENST00000555619.5:c.199T>C ENSP00000451112.1:p.Ser67Pro
ENST00000556009.5:n.264T>C
ENST00000557510.5:c.199T>C ENSP00000451206.1:p.Ser67Pro