Canonical Allele Identifier: CA2625667245
Gene: NPC2 HGNC NCBI

Linked Data

gnomAD v4: 14-74493360-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493360G>C , CM000676.2:g.74493360G>C GRCh38
NC_000014.8:g.74960063G>C , CM000676.1:g.74960063G>C GRCh37
NC_000014.7:g.74029816G>C NCBI36
NG_007117.1:g.5022C>G
NG_033074.1:g.4641G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-63-23C>G ENSP00000450887.1:n.-63-23C>G
ENST00000555619.5:c.-86C>G ENSP00000451112.1:n.-86C>G
ENST00000556009.5:c.147+671C>G
NM_006432.3:c.-86C>G NP_006423.1:n.-86C>G
NM_001363688.1:c.-86C>G NP_001350617.1:n.-86C>G
NM_006432.4:c.-86C>G NP_006423.1:n.-86C>G
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