Canonical Allele Identifier: CA7268168

Gene: NPC2

Linked Data

• dbSNP Id: rs769572626
• ExAC: 14:74951276 T / TTTTA
• gnomAD v2: 14-74951276-T-TTTTA
• gnomAD v4: 14-74484573-T-TTTTA
• MyVariant Identifiers: chr14:g.74951276_74951277insTTTA (hg19) ; chr14:g.74484573_74484574insTTTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74484574_74484577dup , CM000676.2:g.74484574_74484577dup	GRCh38
NC_000014.8:g.74951277_74951280dup , CM000676.1:g.74951277_74951280dup	GRCh37
NC_000014.7:g.74021030_74021033dup	NCBI36
NG_007117.1:g.13805_13808dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.201_204dup MANE Select	ENSP00000451112.2:p.Ser69Ter
ENST00000238633.6:c.201_204dup	ENSP00000238633.2:p.Ser69Ter
ENST00000434013.6:c.201_204dup	ENSP00000412103.2:p.Ser69Ter
ENST00000541064.5:c.201_204dup	ENSP00000442488.1:p.Ser69Ter
ENST00000553490.5:c.201_204dup	ENSP00000451180.1:p.Ser69Ter
ENST00000554482.1:c.158+1752_158+1755dup	ENSP00000451314.1:n.158+1752_158+1755dup
ENST00000555592.1:c.201_204dup	ENSP00000450887.1:p.Ser69Ter
ENST00000555619.5:c.201_204dup	ENSP00000451112.1:p.Ser69Ter
ENST00000556009.5:c.266_269dup
ENST00000557510.5:c.201_204dup	ENSP00000451206.1:p.Ser69Ter
NM_006432.3:c.201_204dup	NP_006423.1:p.Ser69Ter
NM_001363688.1:c.201_204dup	NP_001350617.1:p.Ser69Ter
NM_006432.4:c.201_204dup	NP_006423.1:p.Ser69Ter
NM_001375440.1:c.201_204dup	NP_001362369.1:p.Ser69Ter
NM_006432.5:c.201_204dup MANE Select	NP_006423.1:p.Ser69Ter