Canonical Allele Identifier: CA10576091
Gene: HNRNPH2 HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

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
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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
Search 100 bp 5'
Search 100 bp 3'