Canonical Allele Identifier: CA413942995

Gene: HNRNPH2 RPL36A-HNRNPH2

Linked Data

• gnomAD v4: X-101412777-C-A
• MyVariant Identifiers: chrX:g.100667765C>A (hg19) ; chrX:g.101412777C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101412777C>A , CM000685.2:g.101412777C>A	GRCh38
NC_000023.10:g.100667765C>A , CM000685.1:g.100667765C>A	GRCh37
NC_000023.9:g.100554421C>A	NCBI36
NG_007119.1:g.187G>T , LRG_672:g.187G>T
NG_016327.1:g.9575C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316594.6:c.789C>A (HNRNPH2) MANE Select	ENSP00000361927.2:p.Asp263Glu
ENST00000316594.5:c.789C>A (HNRNPH2)	ENSP00000361927.2:p.Asp263Glu
NM_001032393.2:c.789C>A (HNRNPH2)	NP_001027565.1:p.Asp263Glu
NM_001199973.1:c.*785C>A (RPL36A-HNRNPH2)	NP_001186902.1:n.*785C>A
NM_001199974.1:c.*785C>A (RPL36A-HNRNPH2)	NP_001186903.1:n.*785C>A
NM_019597.4:c.789C>A (HNRNPH2)	NP_062543.1:p.Asp263Glu
NM_001199973.2:c.*785C>A (RPL36A-HNRNPH2)	NP_001186902.2:n.*785C>A
NM_001199974.2:c.*785C>A (RPL36A-HNRNPH2)	NP_001186903.2:n.*785C>A
NM_019597.5:c.789C>A (HNRNPH2) MANE Select	NP_062543.1:p.Asp263Glu
NM_001032393.3:c.789C>A (HNRNPH2)	NP_001027565.1:p.Asp263Glu