Canonical Allele Identifier: CA3589270

Gene: NHP2

Linked Data

• ClinVar Variation Id: 435988
• ClinVar RCV Id: RCV000499806 ; RCV003530056
• dbSNP Id: rs756638436
• ExAC: 5:177580650 C / T
• gnomAD v2: 5-177580650-C-T
• gnomAD v3: 5-178153649-C-T
• gnomAD v4: 5-178153649-C-T
• MyVariant Identifiers: chr5:g.177580650C>T (hg19) ; chr5:g.178153649C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.178153649C>T , CM000667.2:g.178153649C>T	GRCh38
NC_000005.9:g.177580650C>T , CM000667.1:g.177580650C>T	GRCh37
NC_000005.8:g.177513256C>T	NCBI36
NG_011765.1:g.5312G>A , LRG_346:g.5312G>A

Transcript Alleles

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