Canonical Allele Identifier: CA708507842
Gene: NPC2 HGNC NCBI

Linked Data

dbSNP Id: rs1206743135
gnomAD v4: 14-74493433-G-A
MyVariant Identifiers: chr14:g.74960136G>A (hg19) chr14:g.74493433G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493433G>A , CM000676.2:g.74493433G>A GRCh38
NC_000014.8:g.74960136G>A , CM000676.1:g.74960136G>A GRCh37
NC_000014.7:g.74029889G>A NCBI36
NG_007117.1:g.4949C>T
NG_033074.1:g.4714G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-63-96C>T ENSP00000450887.1:n.-63-96C>T
ENST00000555619.5:c.-159C>T ENSP00000451112.1:n.-159C>T
ENST00000556009.5:c.147+598C>T
NM_001363688.1:c.-159C>T NP_001350617.1:n.-159C>T
NM_006432.4:c.-159C>T NP_006423.1:n.-159C>T
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