Canonical Allele Identifier: CA7268212
Gene: NPC2 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.74493217C>T
GRCh37 chr14:g.74959920C>T
Revel Score:
ENST00000434013 0.595
ENST00000541064 0.595
ENST00000555619 (MANE Select) 0.595
ENST00000238633 0.595
ENST00000553490 0.595
ENST00000557510 0.595
ENST00000555592 0.595
gnomAD v2:
14:74959920 C / T
gnomAD v3:
14:74493217 C / T
gnomAD v4:
chr14-74493217-C-T
Joint Max Group AF 0.00001568 (NFE)
Exomes Max Group AF 0.00001627 (NFE)
ClinVar RCV:
RCV001278151
ClinVar Variation:
990180
dbSNP:
80358260
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493217C>T , CM000676.2:g.74493217C>T GRCh38
NC_000014.8:g.74959920C>T , CM000676.1:g.74959920C>T GRCh37
NC_000014.7:g.74029673C>T NCBI36
NG_007117.1:g.5165G>A
NG_033074.1:g.4498C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555619.6:c.58G>A MANE Select ENSP00000451112.2:p.Glu20Lys
ENST00000238633.6:c.58G>A ENSP00000238633.2:p.Glu20Lys
ENST00000434013.6:c.58G>A ENSP00000412103.2:p.Glu20Lys
ENST00000541064.5:c.58G>A ENSP00000442488.1:p.Glu20Lys
ENST00000553490.5:c.58G>A ENSP00000451180.1:p.Glu20Lys
ENST00000554482.1:c.26G>A ENSP00000451314.1:p.Arg9Gln
ENST00000555592.1:c.58G>A ENSP00000450887.1:p.Glu20Lys
ENST00000555619.5:c.58G>A ENSP00000451112.1:p.Glu20Lys
ENST00000556009.5:c.147+814G>A
ENST00000557510.5:c.58G>A ENSP00000451206.1:p.Glu20Lys
NM_006432.3:c.58G>A NP_006423.1:p.Glu20Lys
NM_001363688.1:c.58G>A NP_001350617.1:p.Glu20Lys
NM_006432.4:c.58G>A NP_006423.1:p.Glu20Lys
NM_001375440.1:c.58G>A NP_001362369.1:p.Glu20Lys
NM_006432.5:c.58G>A MANE Select NP_006423.1:p.Glu20Lys
Search 100 bp 5'
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