Canonical Allele Identifier: CA517737518
Gene: HNRNPH2 HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1680647668
MyVariant Identifiers: chrX:g.100667711C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101412723C>T , CM000685.2:g.101412723C>T GRCh38
NC_000023.10:g.100667711C>T , CM000685.1:g.100667711C>T GRCh37
NC_000023.9:g.100554367C>T NCBI36
NG_007119.1:g.241G>A , LRG_672:g.241G>A
NG_016327.1:g.9521C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000316594.6:c.735C>T (HNRNPH2) MANE Select ENSP00000361927.2:p.Asp245=
ENST00000316594.5:c.735C>T (HNRNPH2) ENSP00000361927.2:p.Asp245=
NM_001032393.2:c.735C>T (HNRNPH2) NP_001027565.1:p.Asp245=
NM_001199973.1:c.*731C>T (RPL36A-HNRNPH2) NP_001186902.1:n.*731C>T
NM_001199974.1:c.*731C>T (RPL36A-HNRNPH2) NP_001186903.1:n.*731C>T
NM_019597.4:c.735C>T (HNRNPH2) NP_062543.1:p.Asp245=
NM_001199973.2:c.*731C>T (RPL36A-HNRNPH2) NP_001186902.2:n.*731C>T
NM_001199974.2:c.*731C>T (RPL36A-HNRNPH2) NP_001186903.2:n.*731C>T
NM_019597.5:c.735C>T (HNRNPH2) MANE Select NP_062543.1:p.Asp245=
NM_001032393.3:c.735C>T (HNRNPH2) NP_001027565.1:p.Asp245=