Canonical Allele Identifier: CA413942251

Gene: HNRNPH2 RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 2692571
• ClinVar RCV Id: RCV003542600
• MyVariant Identifiers: chrX:g.100667452T>A (hg19) ; chrX:g.101412464T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101412464T>A , CM000685.2:g.101412464T>A	GRCh38
NC_000023.10:g.100667452T>A , CM000685.1:g.100667452T>A	GRCh37
NC_000023.9:g.100554108T>A	NCBI36
NG_007119.1:g.500A>T , LRG_672:g.500A>T
NG_016327.1:g.9262T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316594.6:c.476T>A (HNRNPH2) MANE Select	ENSP00000361927.2:p.Phe159Tyr
ENST00000316594.5:c.476T>A (HNRNPH2)	ENSP00000361927.2:p.Phe159Tyr
NM_001032393.2:c.476T>A (HNRNPH2)	NP_001027565.1:p.Phe159Tyr
NM_001199973.1:c.*472T>A (RPL36A-HNRNPH2)	NP_001186902.1:n.*472T>A
NM_001199974.1:c.*472T>A (RPL36A-HNRNPH2)	NP_001186903.1:n.*472T>A
NM_019597.4:c.476T>A (HNRNPH2)	NP_062543.1:p.Phe159Tyr
NM_001199973.2:c.*472T>A (RPL36A-HNRNPH2)	NP_001186902.2:n.*472T>A
NM_001199974.2:c.*472T>A (RPL36A-HNRNPH2)	NP_001186903.2:n.*472T>A
NM_019597.5:c.476T>A (HNRNPH2) MANE Select	NP_062543.1:p.Phe159Tyr
NM_001032393.3:c.476T>A (HNRNPH2)	NP_001027565.1:p.Phe159Tyr