Canonical Allele Identifier: CA3589191

Gene: NHP2

Linked Data

• ClinVar Variation Id: 241212
• ClinVar RCV Id: RCV000231151 ; RCV001820755
• dbSNP Id: rs148179279
• ExAC: 5:177577955 T / C
• gnomAD v2: 5-177577955-T-C
• gnomAD v3: 5-178150954-T-C
• gnomAD v4: 5-178150954-T-C
• MyVariant Identifiers: chr5:g.177577955T>C (hg19) ; chr5:g.178150954T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.178150954T>C , CM000667.2:g.178150954T>C	GRCh38
NC_000005.9:g.177577955T>C , CM000667.1:g.177577955T>C	GRCh37
NC_000005.8:g.177510561T>C	NCBI36
NG_011765.1:g.8007A>G , LRG_346:g.8007A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314397.9:c.231-1116A>G	ENSP00000366276.2:n.231-1116A>G
ENST00000697323.1:n.171A>G
ENST00000274606.8:c.270A>G MANE Select	ENSP00000274606.4:p.Val90=
ENST00000274606.7:c.270A>G	ENSP00000274606.3:p.Val90=
ENST00000314397.8:c.231-1116A>G	ENSP00000366276.2:n.231-1116A>G
ENST00000502263.1:c.129A>G	ENSP00000431126.1:p.Val43=
ENST00000511078.1:c.270A>G	ENSP00000423849.1:p.Val90=
ENST00000514354.5:c.270A>G	ENSP00000423803.1:p.Val90=
NM_001034833.1:c.231-1116A>G	NP_001030005.1:n.231-1116A>G
NM_017838.3:c.270A>G , LRG_346t1:c.270A>G	NP_060308.1:p.Val90=
NM_017838.4:c.270A>G MANE Select	NP_060308.1:p.Val90=
NM_001034833.2:c.231-1116A>G	NP_001030005.1:n.231-1116A>G
NM_001396110.1:c.270A>G	NP_001383039.1:p.Val90=