Canonical Allele Identifier: CA7268167
Gene: NPC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 314239
dbSNP Id: rs142075589

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74484566T>C , CM000676.2:g.74484566T>C GRCh38
NC_000014.8:g.74951269T>C , CM000676.1:g.74951269T>C GRCh37
NC_000014.7:g.74021022T>C NCBI36
NG_007117.1:g.13816A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000555619.6:c.212A>G MANE Select ENSP00000451112.2:p.Lys71Arg
ENST00000238633.6:c.212A>G ENSP00000238633.2:p.Lys71Arg
ENST00000434013.6:c.212A>G ENSP00000412103.2:p.Lys71Arg
ENST00000541064.5:c.212A>G ENSP00000442488.1:p.Lys71Arg
ENST00000553490.5:c.212A>G ENSP00000451180.1:p.Lys71Arg
ENST00000554482.1:c.158+1763A>G ENSP00000451314.1:n.158+1763A>G
ENST00000555592.1:c.212A>G ENSP00000450887.1:p.Lys71Arg
ENST00000555619.5:c.212A>G ENSP00000451112.1:p.Lys71Arg
ENST00000556009.5:c.277A>G
ENST00000557510.5:c.212A>G ENSP00000451206.1:p.Lys71Arg
NM_006432.3:c.212A>G NP_006423.1:p.Lys71Arg
NM_001363688.1:c.212A>G NP_001350617.1:p.Lys71Arg
NM_006432.4:c.212A>G NP_006423.1:p.Lys71Arg
NM_001375440.1:c.212A>G NP_001362369.1:p.Lys71Arg
NM_006432.5:c.212A>G MANE Select NP_006423.1:p.Lys71Arg