Canonical Allele Identifier: CA10576091

Gene: HNRNPH2 RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 225760
• ClinVar RCV Id: RCV000256179 ; RCV000509011 ; RCV000623824 ; RCV001195298 ; RCV002273991 ; RCV002285013
• dbSNP Id: rs886039763
• COSMIC: COSM3390342
• MyVariant Identifiers: chrX:g.100667592C>T (hg19) ; chrX:g.101412604C>T (hg38)
• PubMed: PMID:25348405 ; PMID:25356899 ; PMID:27545675

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101412604C>T , CM000685.2:g.101412604C>T	GRCh38
NC_000023.10:g.100667592C>T , CM000685.1:g.100667592C>T	GRCh37
NC_000023.9:g.100554248C>T	NCBI36
NG_007119.1:g.360G>A , LRG_672:g.360G>A
NG_016327.1:g.9402C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316594.6:c.616C>T (HNRNPH2) MANE Select	ENSP00000361927.2:p.Arg206Trp
ENST00000316594.5:c.616C>T (HNRNPH2)	ENSP00000361927.2:p.Arg206Trp
NM_001032393.2:c.616C>T (HNRNPH2)	NP_001027565.1:p.Arg206Trp
NM_001199973.1:c.*612C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.*612C>T
NM_001199974.1:c.*612C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.*612C>T
NM_019597.4:c.616C>T (HNRNPH2)	NP_062543.1:p.Arg206Trp
NM_001199973.2:c.*612C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.*612C>T
NM_001199974.2:c.*612C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.*612C>T
NM_019597.5:c.616C>T (HNRNPH2) MANE Select	NP_062543.1:p.Arg206Trp
NM_001032393.3:c.616C>T (HNRNPH2)	NP_001027565.1:p.Arg206Trp