Canonical Allele Identifier: CA2625666530

Gene: NPC2

Linked Data

• gnomAD v4: 14-74480624-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74480624C>A , CM000676.2:g.74480624C>A	GRCh38
NC_000014.8:g.74947327C>A , CM000676.1:g.74947327C>A	GRCh37
NC_000014.7:g.74017080C>A	NCBI36
NG_007117.1:g.17758G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.441+78G>T MANE Select	ENSP00000451112.2:n.441+78G>T
ENST00000238633.6:c.432+87G>T	ENSP00000238633.2:n.432+87G>T
ENST00000434013.6:c.441+78G>T	ENSP00000412103.2:n.441+78G>T
ENST00000541064.5:c.364-336G>T	ENSP00000442488.1:n.364-336G>T
ENST00000553490.5:c.457+62G>T	ENSP00000451180.1:n.457+62G>T
ENST00000554482.1:c.236+78G>T	ENSP00000451314.1:n.236+78G>T
ENST00000555619.5:c.441+78G>T	ENSP00000451112.1:n.441+78G>T
ENST00000556009.5:c.506+78G>T
ENST00000557510.5:c.519G>T	ENSP00000451206.1:p.Val173=
NM_006432.3:c.441+78G>T	NP_006423.1:n.441+78G>T
NM_001363688.1:c.519G>T	NP_001350617.1:p.Val173=
NM_006432.4:c.441+78G>T	NP_006423.1:n.441+78G>T
NM_001375440.1:c.364-336G>T	NP_001362369.1:n.364-336G>T
NM_006432.5:c.441+78G>T MANE Select	NP_006423.1:n.441+78G>T