Canonical Allele Identifier: CA517737430
Gene: HNRNPH2 HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Linked Data

gnomAD v4: X-101412495-A-G
MyVariant Identifiers: chrX:g.100667483A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101412495A>G , CM000685.2:g.101412495A>G GRCh38
NC_000023.10:g.100667483A>G , CM000685.1:g.100667483A>G GRCh37
NC_000023.9:g.100554139A>G NCBI36
NG_007119.1:g.469T>C , LRG_672:g.469T>C
NG_016327.1:g.9293A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000316594.6:c.507A>G (HNRNPH2) MANE Select ENSP00000361927.2:p.Leu169=
ENST00000316594.5:c.507A>G (HNRNPH2) ENSP00000361927.2:p.Leu169=
NM_001032393.2:c.507A>G (HNRNPH2) NP_001027565.1:p.Leu169=
NM_001199973.1:c.*503A>G (RPL36A-HNRNPH2) NP_001186902.1:n.*503A>G
NM_001199974.1:c.*503A>G (RPL36A-HNRNPH2) NP_001186903.1:n.*503A>G
NM_019597.4:c.507A>G (HNRNPH2) NP_062543.1:p.Leu169=
NM_001199973.2:c.*503A>G (RPL36A-HNRNPH2) NP_001186902.2:n.*503A>G
NM_001199974.2:c.*503A>G (RPL36A-HNRNPH2) NP_001186903.2:n.*503A>G
NM_019597.5:c.507A>G (HNRNPH2) MANE Select NP_062543.1:p.Leu169=
NM_001032393.3:c.507A>G (HNRNPH2) NP_001027565.1:p.Leu169=
Search 100 bp 5'
Search 100 bp 3'