Canonical Allele Identifier: CA517737552
Gene: HNRNPH2 HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1928847525
gnomAD v3: X-101412747-T-C
gnomAD v4: X-101412747-T-C
MyVariant Identifiers: chrX:g.100667735T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101412747T>C , CM000685.2:g.101412747T>C GRCh38
NC_000023.10:g.100667735T>C , CM000685.1:g.100667735T>C GRCh37
NC_000023.9:g.100554391T>C NCBI36
NG_007119.1:g.217A>G , LRG_672:g.217A>G
NG_016327.1:g.9545T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000316594.6:c.759T>C (HNRNPH2) MANE Select ENSP00000361927.2:p.Tyr253=
ENST00000316594.5:c.759T>C (HNRNPH2) ENSP00000361927.2:p.Tyr253=
NM_001032393.2:c.759T>C (HNRNPH2) NP_001027565.1:p.Tyr253=
NM_001199973.1:c.*755T>C (RPL36A-HNRNPH2) NP_001186902.1:n.*755T>C
NM_001199974.1:c.*755T>C (RPL36A-HNRNPH2) NP_001186903.1:n.*755T>C
NM_019597.4:c.759T>C (HNRNPH2) NP_062543.1:p.Tyr253=
NM_001199973.2:c.*755T>C (RPL36A-HNRNPH2) NP_001186902.2:n.*755T>C
NM_001199974.2:c.*755T>C (RPL36A-HNRNPH2) NP_001186903.2:n.*755T>C
NM_019597.5:c.759T>C (HNRNPH2) MANE Select NP_062543.1:p.Tyr253=
NM_001032393.3:c.759T>C (HNRNPH2) NP_001027565.1:p.Tyr253=
Search 100 bp 5'
Search 100 bp 3'