Canonical Allele Identifier: CA10576092

Gene: HNRNPH2 RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 225761
• ClinVar RCV Id: RCV000256185 ; RCV000509012 ; RCV003401124
• dbSNP Id: rs886039764
• COSMIC: COSM1169175
• MyVariant Identifiers: chrX:g.100667593G>A (hg19) ; chrX:g.101412605G>A (hg38)
• PubMed: PMID:27545675

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101412605G>A , CM000685.2:g.101412605G>A	GRCh38
NC_000023.10:g.100667593G>A , CM000685.1:g.100667593G>A	GRCh37
NC_000023.9:g.100554249G>A	NCBI36
NG_007119.1:g.359C>T , LRG_672:g.359C>T
NG_016327.1:g.9403G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000316594.6:c.617G>A (HNRNPH2) MANE Select	ENSP00000361927.2:p.Arg206Gln
ENST00000316594.5:c.617G>A (HNRNPH2)	ENSP00000361927.2:p.Arg206Gln
NM_001032393.2:c.617G>A (HNRNPH2)	NP_001027565.1:p.Arg206Gln
NM_001199973.1:c.*613G>A (RPL36A-HNRNPH2)	NP_001186902.1:n.*613G>A
NM_001199974.1:c.*613G>A (RPL36A-HNRNPH2)	NP_001186903.1:n.*613G>A
NM_019597.4:c.617G>A (HNRNPH2)	NP_062543.1:p.Arg206Gln
NM_001199973.2:c.*613G>A (RPL36A-HNRNPH2)	NP_001186902.2:n.*613G>A
NM_001199974.2:c.*613G>A (RPL36A-HNRNPH2)	NP_001186903.2:n.*613G>A
NM_019597.5:c.617G>A (HNRNPH2) MANE Select	NP_062543.1:p.Arg206Gln
NM_001032393.3:c.617G>A (HNRNPH2)	NP_001027565.1:p.Arg206Gln