Canonical Allele Identifier: CA413942553

Gene: HNRNPH2 RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 2536124
• ClinVar RCV Id: RCV003266112
• gnomAD v4: X-101412592-A-C
• MyVariant Identifiers: chrX:g.100667580A>C (hg19) ; chrX:g.101412592A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101412592A>C , CM000685.2:g.101412592A>C	GRCh38
NC_000023.10:g.100667580A>C , CM000685.1:g.100667580A>C	GRCh37
NC_000023.9:g.100554236A>C	NCBI36
NG_007119.1:g.372T>G , LRG_672:g.372T>G
NG_016327.1:g.9390A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316594.6:c.604A>C (HNRNPH2) MANE Select	ENSP00000361927.2:p.Met202Leu
ENST00000316594.5:c.604A>C (HNRNPH2)	ENSP00000361927.2:p.Met202Leu
NM_001032393.2:c.604A>C (HNRNPH2)	NP_001027565.1:p.Met202Leu
NM_001199973.1:c.*600A>C (RPL36A-HNRNPH2)	NP_001186902.1:n.*600A>C
NM_001199974.1:c.*600A>C (RPL36A-HNRNPH2)	NP_001186903.1:n.*600A>C
NM_019597.4:c.604A>C (HNRNPH2)	NP_062543.1:p.Met202Leu
NM_001199973.2:c.*600A>C (RPL36A-HNRNPH2)	NP_001186902.2:n.*600A>C
NM_001199974.2:c.*600A>C (RPL36A-HNRNPH2)	NP_001186903.2:n.*600A>C
NM_019597.5:c.604A>C (HNRNPH2) MANE Select	NP_062543.1:p.Met202Leu
NM_001032393.3:c.604A>C (HNRNPH2)	NP_001027565.1:p.Met202Leu