Canonical Allele Identifier: CA413942483

Gene: HNRNPH2 RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs1555988402
• gnomAD v2: X-100667547-G-A
• gnomAD v4: X-101412559-G-A
• MyVariant Identifiers: chrX:g.100667547G>A (hg19) ; chrX:g.101412559G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101412559G>A , CM000685.2:g.101412559G>A	GRCh38
NC_000023.10:g.100667547G>A , CM000685.1:g.100667547G>A	GRCh37
NC_000023.9:g.100554203G>A	NCBI36
NG_007119.1:g.405C>T , LRG_672:g.405C>T
NG_016327.1:g.9357G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316594.6:c.571G>A (HNRNPH2) MANE Select	ENSP00000361927.2:p.Val191Ile
ENST00000316594.5:c.571G>A (HNRNPH2)	ENSP00000361927.2:p.Val191Ile
NM_001032393.2:c.571G>A (HNRNPH2)	NP_001027565.1:p.Val191Ile
NM_001199973.1:c.*567G>A (RPL36A-HNRNPH2)	NP_001186902.1:n.*567G>A
NM_001199974.1:c.*567G>A (RPL36A-HNRNPH2)	NP_001186903.1:n.*567G>A
NM_019597.4:c.571G>A (HNRNPH2)	NP_062543.1:p.Val191Ile
NM_001199973.2:c.*567G>A (RPL36A-HNRNPH2)	NP_001186902.2:n.*567G>A
NM_001199974.2:c.*567G>A (RPL36A-HNRNPH2)	NP_001186903.2:n.*567G>A
NM_019597.5:c.571G>A (HNRNPH2) MANE Select	NP_062543.1:p.Val191Ile
NM_001032393.3:c.571G>A (HNRNPH2)	NP_001027565.1:p.Val191Ile