Canonical Allele Identifier: CA2580100125

Gene: HNRNPH2 RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 1708226
• ClinVar RCV Id: RCV002287599

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101412448del , CM000685.2:g.101412448del	GRCh38
NC_000023.10:g.100667436del , CM000685.1:g.100667436del	GRCh37
NC_000023.9:g.100554092del	NCBI36
NG_007119.1:g.519del , LRG_672:g.519del
NG_016327.1:g.9246del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316594.6:c.460del (HNRNPH2) MANE Select	ENSP00000361927.2:p.Glu154LysfsTer11
ENST00000316594.5:c.460del (HNRNPH2)	ENSP00000361927.2:p.Glu154LysfsTer11
NM_001032393.2:c.460del (HNRNPH2)	NP_001027565.1:p.Glu154LysfsTer11
NM_001199973.1:c.*456del (RPL36A-HNRNPH2)	NP_001186902.1:n.*456del
NM_001199974.1:c.*456del (RPL36A-HNRNPH2)	NP_001186903.1:n.*456del
NM_019597.4:c.460del (HNRNPH2)	NP_062543.1:p.Glu154LysfsTer11
NM_001199973.2:c.*456del (RPL36A-HNRNPH2)	NP_001186902.2:n.*456del
NM_001199974.2:c.*456del (RPL36A-HNRNPH2)	NP_001186903.2:n.*456del
NM_019597.5:c.460del (HNRNPH2) MANE Select	NP_062543.1:p.Glu154LysfsTer11
NM_001032393.3:c.460del (HNRNPH2)	NP_001027565.1:p.Glu154LysfsTer11