Canonical Allele Identifier: CA2625666529

Gene: NPC2

Linked Data

• gnomAD v4: 14-74480611-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74480611T>G , CM000676.2:g.74480611T>G	GRCh38
NC_000014.8:g.74947314T>G , CM000676.1:g.74947314T>G	GRCh37
NC_000014.7:g.74017067T>G	NCBI36
NG_007117.1:g.17771A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.441+91A>C MANE Select	ENSP00000451112.2:n.441+91A>C
ENST00000238633.6:c.432+100A>C	ENSP00000238633.2:n.432+100A>C
ENST00000434013.6:c.441+91A>C	ENSP00000412103.2:n.441+91A>C
ENST00000541064.5:c.364-323A>C	ENSP00000442488.1:n.364-323A>C
ENST00000553490.5:c.457+75A>C	ENSP00000451180.1:n.457+75A>C
ENST00000554482.1:c.236+91A>C	ENSP00000451314.1:n.236+91A>C
ENST00000555619.5:c.441+91A>C	ENSP00000451112.1:n.441+91A>C
ENST00000556009.5:c.506+91A>C
ENST00000557510.5:c.*7A>C	ENSP00000451206.1:n.*7A>C
NM_006432.3:c.441+91A>C	NP_006423.1:n.441+91A>C
NM_001363688.1:c.*7A>C	NP_001350617.1:n.*7A>C
NM_006432.4:c.441+91A>C	NP_006423.1:n.441+91A>C
NM_001375440.1:c.364-323A>C	NP_001362369.1:n.364-323A>C
NM_006432.5:c.441+91A>C MANE Select	NP_006423.1:n.441+91A>C