Canonical Allele Identifier: CA413942484
Gene: HNRNPH2 HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.100667547G>C (hg19) chrX:g.101412559G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101412559G>C , CM000685.2:g.101412559G>C GRCh38
NC_000023.10:g.100667547G>C , CM000685.1:g.100667547G>C GRCh37
NC_000023.9:g.100554203G>C NCBI36
NG_007119.1:g.405C>G , LRG_672:g.405C>G
NG_016327.1:g.9357G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000316594.6:c.571G>C (HNRNPH2) MANE Select ENSP00000361927.2:p.Val191Leu
ENST00000316594.5:c.571G>C (HNRNPH2) ENSP00000361927.2:p.Val191Leu
NM_001032393.2:c.571G>C (HNRNPH2) NP_001027565.1:p.Val191Leu
NM_001199973.1:c.*567G>C (RPL36A-HNRNPH2) NP_001186902.1:n.*567G>C
NM_001199974.1:c.*567G>C (RPL36A-HNRNPH2) NP_001186903.1:n.*567G>C
NM_019597.4:c.571G>C (HNRNPH2) NP_062543.1:p.Val191Leu
NM_001199973.2:c.*567G>C (RPL36A-HNRNPH2) NP_001186902.2:n.*567G>C
NM_001199974.2:c.*567G>C (RPL36A-HNRNPH2) NP_001186903.2:n.*567G>C
NM_019597.5:c.571G>C (HNRNPH2) MANE Select NP_062543.1:p.Val191Leu
NM_001032393.3:c.571G>C (HNRNPH2) NP_001027565.1:p.Val191Leu
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