Canonical Allele Identifier: CA263573241

Gene: NPC2

Linked Data

• dbSNP Id: rs981046790
• gnomAD v2: 14-74959943-G-T
• gnomAD v4: 14-74493240-G-T
• MyVariant Identifiers: chr14:g.74959943G>T (hg19) ; chr14:g.74493240G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493240G>T , CM000676.2:g.74493240G>T	GRCh38
NC_000014.8:g.74959943G>T , CM000676.1:g.74959943G>T	GRCh37
NC_000014.7:g.74029696G>T	NCBI36
NG_007117.1:g.5142C>A
NG_033074.1:g.4521G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.35C>A MANE Select	ENSP00000451112.2:p.Ala12Glu
ENST00000238633.6:c.35C>A	ENSP00000238633.2:p.Ala12Glu
ENST00000434013.6:c.35C>A	ENSP00000412103.2:p.Ala12Glu
ENST00000541064.5:c.35C>A	ENSP00000442488.1:p.Ala12Glu
ENST00000553490.5:c.35C>A	ENSP00000451180.1:p.Ala12Glu
ENST00000554482.1:c.3C>A	ENSP00000451314.1:p.Gly1=
ENST00000555592.1:c.35C>A	ENSP00000450887.1:p.Ala12Glu
ENST00000555619.5:c.35C>A	ENSP00000451112.1:p.Ala12Glu
ENST00000556009.5:c.147+791C>A
ENST00000557510.5:c.35C>A	ENSP00000451206.1:p.Ala12Glu
NM_006432.3:c.35C>A	NP_006423.1:p.Ala12Glu
NM_001363688.1:c.35C>A	NP_001350617.1:p.Ala12Glu
NM_006432.4:c.35C>A	NP_006423.1:p.Ala12Glu
NM_001375440.1:c.35C>A	NP_001362369.1:p.Ala12Glu
NM_006432.5:c.35C>A MANE Select	NP_006423.1:p.Ala12Glu