Canonical Allele Identifier: CA517737603
Gene: HNRNPH2 HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1569308126
MyVariant Identifiers: chrX:g.100667765C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101412777C>T , CM000685.2:g.101412777C>T GRCh38
NC_000023.10:g.100667765C>T , CM000685.1:g.100667765C>T GRCh37
NC_000023.9:g.100554421C>T NCBI36
NG_007119.1:g.187G>A , LRG_672:g.187G>A
NG_016327.1:g.9575C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000316594.6:c.789C>T (HNRNPH2) MANE Select ENSP00000361927.2:p.Asp263=
ENST00000316594.5:c.789C>T (HNRNPH2) ENSP00000361927.2:p.Asp263=
NM_001032393.2:c.789C>T (HNRNPH2) NP_001027565.1:p.Asp263=
NM_001199973.1:c.*785C>T (RPL36A-HNRNPH2) NP_001186902.1:n.*785C>T
NM_001199974.1:c.*785C>T (RPL36A-HNRNPH2) NP_001186903.1:n.*785C>T
NM_019597.4:c.789C>T (HNRNPH2) NP_062543.1:p.Asp263=
NM_001199973.2:c.*785C>T (RPL36A-HNRNPH2) NP_001186902.2:n.*785C>T
NM_001199974.2:c.*785C>T (RPL36A-HNRNPH2) NP_001186903.2:n.*785C>T
NM_019597.5:c.789C>T (HNRNPH2) MANE Select NP_062543.1:p.Asp263=
NM_001032393.3:c.789C>T (HNRNPH2) NP_001027565.1:p.Asp263=