Canonical Allele Identifier: CA263658688
Gene: NPC2 HGNC NCBI

Linked Data

dbSNP Id: rs865981290

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74480653T>C , CM000676.2:g.74480653T>C GRCh38
NC_000014.8:g.74947356T>C , CM000676.1:g.74947356T>C GRCh37
NC_000014.7:g.74017109T>C NCBI36
NG_007117.1:g.17729A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000555619.6:c.441+49A>G MANE Select ENSP00000451112.2:n.441+49A>G
ENST00000238633.6:c.432+58A>G ENSP00000238633.2:n.432+58A>G
ENST00000434013.6:c.441+49A>G ENSP00000412103.2:n.441+49A>G
ENST00000541064.5:c.364-365A>G ENSP00000442488.1:n.364-365A>G
ENST00000553490.5:c.457+33A>G ENSP00000451180.1:n.457+33A>G
ENST00000554482.1:c.236+49A>G ENSP00000451314.1:n.236+49A>G
ENST00000555619.5:c.441+49A>G ENSP00000451112.1:n.441+49A>G
ENST00000556009.5:c.506+49A>G
ENST00000557510.5:c.490A>G ENSP00000451206.1:p.Arg164Gly
NM_006432.3:c.441+49A>G NP_006423.1:n.441+49A>G
NM_001363688.1:c.490A>G NP_001350617.1:p.Arg164Gly
NM_006432.4:c.441+49A>G NP_006423.1:n.441+49A>G
NM_001375440.1:c.364-365A>G NP_001362369.1:n.364-365A>G
NM_006432.5:c.441+49A>G MANE Select NP_006423.1:n.441+49A>G