Canonical Allele Identifier: CA7268180

Gene: NPC2

Linked Data

• ClinVar Variation Id: 259982
• ClinVar RCV Id: RCV000248498 ; RCV000371703 ; RCV001528642 ; RCV001519265
• dbSNP Id: rs189666920
• ExAC: 14:74953018 C / T
• gnomAD v2: 14-74953018-C-T
• gnomAD v3: 14-74486315-C-T
• gnomAD v4: 14-74486315-C-T
• MyVariant Identifiers: chr14:g.74953018C>T (hg19) ; chr14:g.74486315C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74486315C>T , CM000676.2:g.74486315C>T	GRCh38
NC_000014.8:g.74953018C>T , CM000676.1:g.74953018C>T	GRCh37
NC_000014.7:g.74022771C>T	NCBI36
NG_007117.1:g.12067G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.190+14G>A MANE Select	ENSP00000451112.2:n.190+14G>A
ENST00000238633.6:c.190+14G>A	ENSP00000238633.2:n.190+14G>A
ENST00000434013.6:c.190+14G>A	ENSP00000412103.2:n.190+14G>A
ENST00000541064.5:c.190+14G>A	ENSP00000442488.1:n.190+14G>A
ENST00000553490.5:c.190+14G>A	ENSP00000451180.1:n.190+14G>A
ENST00000554482.1:c.158+14G>A	ENSP00000451314.1:n.158+14G>A
ENST00000555592.1:c.190+14G>A	ENSP00000450887.1:n.190+14G>A
ENST00000555619.5:c.190+14G>A	ENSP00000451112.1:n.190+14G>A
ENST00000556009.5:c.255+14G>A
ENST00000557510.5:c.190+14G>A	ENSP00000451206.1:n.190+14G>A
NM_006432.3:c.190+14G>A	NP_006423.1:n.190+14G>A
NM_001363688.1:c.190+14G>A	NP_001350617.1:n.190+14G>A
NM_006432.4:c.190+14G>A	NP_006423.1:n.190+14G>A
NM_001375440.1:c.190+14G>A	NP_001362369.1:n.190+14G>A
NM_006432.5:c.190+14G>A MANE Select	NP_006423.1:n.190+14G>A