Canonical Allele Identifier: CA413941836

Gene: HNRNPH2 RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs1555988372
• gnomAD v2: X-100667345-C-G
• gnomAD v4: X-101412357-C-G
• MyVariant Identifiers: chrX:g.100667345C>G (hg19) ; chrX:g.101412357C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101412357C>G , CM000685.2:g.101412357C>G	GRCh38
NC_000023.10:g.100667345C>G , CM000685.1:g.100667345C>G	GRCh37
NC_000023.9:g.100554001C>G	NCBI36
NG_007119.1:g.607G>C , LRG_672:g.607G>C
NG_016327.1:g.9155C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316594.6:c.369C>G (HNRNPH2) MANE Select	ENSP00000361927.2:p.Ser123Arg
ENST00000316594.5:c.369C>G (HNRNPH2)	ENSP00000361927.2:p.Ser123Arg
NM_001032393.2:c.369C>G (HNRNPH2)	NP_001027565.1:p.Ser123Arg
NM_001199973.1:c.*365C>G (RPL36A-HNRNPH2)	NP_001186902.1:n.*365C>G
NM_001199974.1:c.*365C>G (RPL36A-HNRNPH2)	NP_001186903.1:n.*365C>G
NM_019597.4:c.369C>G (HNRNPH2)	NP_062543.1:p.Ser123Arg
NM_001199973.2:c.*365C>G (RPL36A-HNRNPH2)	NP_001186902.2:n.*365C>G
NM_001199974.2:c.*365C>G (RPL36A-HNRNPH2)	NP_001186903.2:n.*365C>G
NM_019597.5:c.369C>G (HNRNPH2) MANE Select	NP_062543.1:p.Ser123Arg
NM_001032393.3:c.369C>G (HNRNPH2)	NP_001027565.1:p.Ser123Arg