Canonical Allele Identifier: CA517737467
Gene: HNRNPH2 HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.100667675T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101412687T>G , CM000685.2:g.101412687T>G GRCh38
NC_000023.10:g.100667675T>G , CM000685.1:g.100667675T>G GRCh37
NC_000023.9:g.100554331T>G NCBI36
NG_007119.1:g.277A>C , LRG_672:g.277A>C
NG_016327.1:g.9485T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000316594.6:c.699T>G (HNRNPH2) MANE Select ENSP00000361927.2:p.Arg233=
ENST00000316594.5:c.699T>G (HNRNPH2) ENSP00000361927.2:p.Arg233=
NM_001032393.2:c.699T>G (HNRNPH2) NP_001027565.1:p.Arg233=
NM_001199973.1:c.*695T>G (RPL36A-HNRNPH2) NP_001186902.1:n.*695T>G
NM_001199974.1:c.*695T>G (RPL36A-HNRNPH2) NP_001186903.1:n.*695T>G
NM_019597.4:c.699T>G (HNRNPH2) NP_062543.1:p.Arg233=
NM_001199973.2:c.*695T>G (RPL36A-HNRNPH2) NP_001186902.2:n.*695T>G
NM_001199974.2:c.*695T>G (RPL36A-HNRNPH2) NP_001186903.2:n.*695T>G
NM_019597.5:c.699T>G (HNRNPH2) MANE Select NP_062543.1:p.Arg233=
NM_001032393.3:c.699T>G (HNRNPH2) NP_001027565.1:p.Arg233=