Canonical Allele Identifier: CA390531555

Gene: NPC2

Linked Data

• ClinVar Variation Id: 1523959
• ClinVar RCV Id: RCV002031362
• dbSNP Id: rs2139664443
• MyVariant Identifiers: chr14:g.74947409T>C (hg19) ; chr14:g.74480706T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74480706T>C , CM000676.2:g.74480706T>C	GRCh38
NC_000014.8:g.74947409T>C , CM000676.1:g.74947409T>C	GRCh37
NC_000014.7:g.74017162T>C	NCBI36
NG_007117.1:g.17676A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.437A>G MANE Select	ENSP00000451112.2:p.Gln146Arg
ENST00000238633.6:c.432+5A>G	ENSP00000238633.2:n.432+5A>G
ENST00000434013.6:c.437A>G	ENSP00000412103.2:p.Gln146Arg
ENST00000541064.5:c.364-418A>G	ENSP00000442488.1:n.364-418A>G
ENST00000553490.5:c.437A>G	ENSP00000451180.1:p.Gln146Arg
ENST00000554482.1:c.232A>G	ENSP00000451314.1:n.232A>G
ENST00000555619.5:c.437A>G	ENSP00000451112.1:p.Gln146Arg
ENST00000556009.5:c.502A>G
ENST00000557510.5:c.437A>G	ENSP00000451206.1:p.Gln146Arg
NM_006432.3:c.437A>G	NP_006423.1:p.Gln146Arg
NM_001363688.1:c.437A>G	NP_001350617.1:p.Gln146Arg
NM_006432.4:c.437A>G	NP_006423.1:p.Gln146Arg
NM_001375440.1:c.364-418A>G	NP_001362369.1:n.364-418A>G
NM_006432.5:c.437A>G MANE Select	NP_006423.1:p.Gln146Arg