Canonical Allele Identifier: CA7268125

Gene: NPC2

Linked Data

• dbSNP Id: rs762247709
• ExAC: 14:74947425 A / G
• gnomAD v2: 14-74947425-A-G
• gnomAD v4: 14-74480722-A-G
• MyVariant Identifiers: chr14:g.74947425A>G (hg19) ; chr14:g.74480722A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74480722A>G , CM000676.2:g.74480722A>G	GRCh38
NC_000014.8:g.74947425A>G , CM000676.1:g.74947425A>G	GRCh37
NC_000014.7:g.74017178A>G	NCBI36
NG_007117.1:g.17660T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.421T>C MANE Select	ENSP00000451112.2:p.Trp141Arg
ENST00000238633.6:c.421T>C	ENSP00000238633.2:p.Trp141Arg
ENST00000434013.6:c.421T>C	ENSP00000412103.2:p.Trp141Arg
ENST00000541064.5:c.364-434T>C	ENSP00000442488.1:n.364-434T>C
ENST00000553490.5:c.421T>C	ENSP00000451180.1:p.Trp141Arg
ENST00000554482.1:c.216T>C	ENSP00000451314.1:n.216T>C
ENST00000555619.5:c.421T>C	ENSP00000451112.1:p.Trp141Arg
ENST00000556009.5:c.486T>C
ENST00000557510.5:c.421T>C	ENSP00000451206.1:p.Trp141Arg
NM_006432.3:c.421T>C	NP_006423.1:p.Trp141Arg
NM_001363688.1:c.421T>C	NP_001350617.1:p.Trp141Arg
NM_006432.4:c.421T>C	NP_006423.1:p.Trp141Arg
NM_001375440.1:c.364-434T>C	NP_001362369.1:n.364-434T>C
NM_006432.5:c.421T>C MANE Select	NP_006423.1:p.Trp141Arg