Canonical Allele Identifier: CA7268079

Gene: NPC2

Linked Data

• ClinVar Variation Id: 502347
• ClinVar RCV Id: RCV000591868 ; RCV001121867 ; RCV001726255
• dbSNP Id: rs80216539
• ExAC: 14:74946968 A / G
• gnomAD v2: 14-74946968-A-G
• gnomAD v3: 14-74480265-A-G
• gnomAD v4: 14-74480265-A-G
• MyVariant Identifiers: chr14:g.74946968A>G (hg19) ; chr14:g.74480265A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74480265A>G , CM000676.2:g.74480265A>G	GRCh38
NC_000014.8:g.74946968A>G , CM000676.1:g.74946968A>G	GRCh37
NC_000014.7:g.74016721A>G	NCBI36
NG_007117.1:g.18117T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.*9T>C MANE Select	ENSP00000451112.2:n.*9T>C
ENST00000238633.6:c.*9T>C	ENSP00000238633.2:n.*9T>C
ENST00000434013.6:c.441+437T>C	ENSP00000412103.2:n.441+437T>C
ENST00000541064.5:c.*9T>C	ENSP00000442488.1:n.*9T>C
ENST00000553490.5:c.481T>C	ENSP00000451180.1:p.Leu161=
ENST00000554482.1:c.260T>C	ENSP00000451314.1:n.260T>C
ENST00000555619.5:c.*9T>C	ENSP00000451112.1:n.*9T>C
ENST00000556009.5:c.530T>C
ENST00000557510.5:c.*353T>C	ENSP00000451206.1:n.*353T>C
NM_006432.3:c.*9T>C	NP_006423.1:n.*9T>C
NM_001363688.1:c.*353T>C	NP_001350617.1:n.*353T>C
NM_006432.4:c.*9T>C	NP_006423.1:n.*9T>C
NM_001375440.1:c.*9T>C	NP_001362369.1:n.*9T>C
NM_006432.5:c.*9T>C MANE Select	NP_006423.1:n.*9T>C