Canonical Allele Identifier: CA390530680

Gene: NPC2

Linked Data

• MyVariant Identifiers: chr14:g.74946977T>G (hg19) ; chr14:g.74480274T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74480274T>G , CM000676.2:g.74480274T>G	GRCh38
NC_000014.8:g.74946977T>G , CM000676.1:g.74946977T>G	GRCh37
NC_000014.7:g.74016730T>G	NCBI36
NG_007117.1:g.18108A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.456A>C MANE Select	ENSP00000451112.2:p.Ter152Tyr
ENST00000238633.6:c.447A>C	ENSP00000238633.2:p.Ter149Tyr
ENST00000434013.6:c.441+428A>C	ENSP00000412103.2:n.441+428A>C
ENST00000541064.5:c.378A>C	ENSP00000442488.1:p.Ter126Tyr
ENST00000553490.5:c.472A>C	ENSP00000451180.1:p.Ser158Arg
ENST00000554482.1:c.251A>C	ENSP00000451314.1:n.251A>C
ENST00000555619.5:c.456A>C	ENSP00000451112.1:p.Ter152Tyr
ENST00000556009.5:c.521A>C
ENST00000557510.5:c.*344A>C	ENSP00000451206.1:n.*344A>C
NM_006432.3:c.456A>C	NP_006423.1:p.Ter152Tyr
NM_001363688.1:c.*344A>C	NP_001350617.1:n.*344A>C
NM_006432.4:c.456A>C	NP_006423.1:p.Ter152Tyr
NM_001375440.1:c.378A>C	NP_001362369.1:p.Ter126Tyr
NM_006432.5:c.456A>C MANE Select	NP_006423.1:p.Ter152Tyr