Canonical Allele Identifier: CA517737644
Gene: HNRNPH2 HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.100667792T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101412804T>A , CM000685.2:g.101412804T>A GRCh38
NC_000023.10:g.100667792T>A , CM000685.1:g.100667792T>A GRCh37
NC_000023.9:g.100554448T>A NCBI36
NG_007119.1:g.160A>T , LRG_672:g.160A>T
NG_016327.1:g.9602T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000316594.6:c.816T>A (HNRNPH2) MANE Select ENSP00000361927.2:p.Ser272=
ENST00000316594.5:c.816T>A (HNRNPH2) ENSP00000361927.2:p.Ser272=
NM_001032393.2:c.816T>A (HNRNPH2) NP_001027565.1:p.Ser272=
NM_001199973.1:c.*812T>A (RPL36A-HNRNPH2) NP_001186902.1:n.*812T>A
NM_001199974.1:c.*812T>A (RPL36A-HNRNPH2) NP_001186903.1:n.*812T>A
NM_019597.4:c.816T>A (HNRNPH2) NP_062543.1:p.Ser272=
NM_001199973.2:c.*812T>A (RPL36A-HNRNPH2) NP_001186902.2:n.*812T>A
NM_001199974.2:c.*812T>A (RPL36A-HNRNPH2) NP_001186903.2:n.*812T>A
NM_019597.5:c.816T>A (HNRNPH2) MANE Select NP_062543.1:p.Ser272=
NM_001032393.3:c.816T>A (HNRNPH2) NP_001027565.1:p.Ser272=