Canonical Allele Identifier: CA10646030

Gene: NPC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74479979G>C , CM000676.2:g.74479979G>C	GRCh38
NC_000014.8:g.74946682G>C , CM000676.1:g.74946682G>C	GRCh37
NC_000014.7:g.74016435G>C	NCBI36
NG_007117.1:g.18403C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006432.5:c.*295C>G MANE Select	NP_006423.1:n.*295C>G
ENST00000555619.6:c.*295C>G MANE Select	ENSP00000451112.2:n.*295C>G
NM_001363688.1:c.*639C>G	NP_001350617.1:n.*639C>G
NM_001375440.1:c.*295C>G	NP_001362369.1:n.*295C>G
NM_006432.3:c.*295C>G	NP_006423.1:n.*295C>G
NM_006432.4:c.*295C>G	NP_006423.1:n.*295C>G
ENST00000238633.6:c.*295C>G	ENSP00000238633.2:n.*295C>G
ENST00000434013.6:c.441+723C>G	ENSP00000412103.2:n.441+723C>G
ENST00000541064.5:c.*295C>G	ENSP00000442488.1:n.*295C>G
ENST00000554482.1:c.546C>G	ENSP00000451314.1:n.546C>G
ENST00000555619.5:c.*295C>G	ENSP00000451112.1:n.*295C>G