Canonical Allele Identifier: CA413942633

Gene: HNRNPH2 RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 1301225
• ClinVar RCV Id: RCV001733296
• dbSNP Id: rs782534334
• gnomAD v4: X-101412626-C-T
• MyVariant Identifiers: chrX:g.100667614C>T (hg19) ; chrX:g.101412626C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101412626C>T , CM000685.2:g.101412626C>T	GRCh38
NC_000023.10:g.100667614C>T , CM000685.1:g.100667614C>T	GRCh37
NC_000023.9:g.100554270C>T	NCBI36
NG_007119.1:g.338G>A , LRG_672:g.338G>A
NG_016327.1:g.9424C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316594.6:c.638C>T (HNRNPH2) MANE Select	ENSP00000361927.2:p.Pro213Leu
ENST00000316594.5:c.638C>T (HNRNPH2)	ENSP00000361927.2:p.Pro213Leu
NM_001032393.2:c.638C>T (HNRNPH2)	NP_001027565.1:p.Pro213Leu
NM_001199973.1:c.*634C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.*634C>T
NM_001199974.1:c.*634C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.*634C>T
NM_019597.4:c.638C>T (HNRNPH2)	NP_062543.1:p.Pro213Leu
NM_001199973.2:c.*634C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.*634C>T
NM_001199974.2:c.*634C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.*634C>T
NM_019597.5:c.638C>T (HNRNPH2) MANE Select	NP_062543.1:p.Pro213Leu
NM_001032393.3:c.638C>T (HNRNPH2)	NP_001027565.1:p.Pro213Leu