Canonical Allele Identifier: CA3589267

Gene: NHP2

Linked Data

• ClinVar Variation Id: 353027
• ClinVar RCV Id: RCV000469686 ; RCV001702437 ; RCV001821077 ; RCV003972482
• dbSNP Id: rs376220034
• ExAC: 5:177580649 T / A
• gnomAD v2: 5-177580649-T-A
• gnomAD v3: 5-178153648-T-A
• gnomAD v4: 5-178153648-T-A
• MyVariant Identifiers: chr5:g.177580649T>A (hg19) ; chr5:g.178153648T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.178153648T>A , CM000667.2:g.178153648T>A	GRCh38
NC_000005.9:g.177580649T>A , CM000667.1:g.177580649T>A	GRCh37
NC_000005.8:g.177513255T>A	NCBI36
NG_011765.1:g.5313A>T , LRG_346:g.5313A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314397.9:c.160+10A>T	ENSP00000366276.2:n.160+10A>T
ENST00000274606.8:c.160+10A>T MANE Select	ENSP00000274606.4:n.160+10A>T
ENST00000274606.7:c.160+10A>T	ENSP00000274606.3:n.160+10A>T
ENST00000314397.8:c.160+10A>T	ENSP00000366276.2:n.160+10A>T
ENST00000510363.1:n.227+10A>T
ENST00000511078.1:c.160+10A>T	ENSP00000423849.1:n.160+10A>T
ENST00000514354.5:c.160+10A>T	ENSP00000423803.1:n.160+10A>T
NM_001034833.1:c.160+10A>T	NP_001030005.1:n.160+10A>T
NM_017838.3:c.160+10A>T , LRG_346t1:c.160+10A>T	NP_060308.1:n.160+10A>T
NM_017838.4:c.160+10A>T MANE Select	NP_060308.1:n.160+10A>T
NM_001034833.2:c.160+10A>T	NP_001030005.1:n.160+10A>T
NM_001396110.1:c.160+10A>T	NP_001383039.1:n.160+10A>T