Canonical Allele Identifier: CA413942320
Gene: HNRNPH2 HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.100667481T>G (hg19) chrX:g.101412493T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101412493T>G , CM000685.2:g.101412493T>G GRCh38
NC_000023.10:g.100667481T>G , CM000685.1:g.100667481T>G GRCh37
NC_000023.9:g.100554137T>G NCBI36
NG_007119.1:g.471A>C , LRG_672:g.471A>C
NG_016327.1:g.9291T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000316594.6:c.505T>G (HNRNPH2) MANE Select ENSP00000361927.2:p.Leu169Val
ENST00000316594.5:c.505T>G (HNRNPH2) ENSP00000361927.2:p.Leu169Val
NM_001032393.2:c.505T>G (HNRNPH2) NP_001027565.1:p.Leu169Val
NM_001199973.1:c.*501T>G (RPL36A-HNRNPH2) NP_001186902.1:n.*501T>G
NM_001199974.1:c.*501T>G (RPL36A-HNRNPH2) NP_001186903.1:n.*501T>G
NM_019597.4:c.505T>G (HNRNPH2) NP_062543.1:p.Leu169Val
NM_001199973.2:c.*501T>G (RPL36A-HNRNPH2) NP_001186902.2:n.*501T>G
NM_001199974.2:c.*501T>G (RPL36A-HNRNPH2) NP_001186903.2:n.*501T>G
NM_019597.5:c.505T>G (HNRNPH2) MANE Select NP_062543.1:p.Leu169Val
NM_001032393.3:c.505T>G (HNRNPH2) NP_001027565.1:p.Leu169Val
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