Canonical Allele Identifier: CA413942026

Gene: HNRNPH2 RPL36A-HNRNPH2

Linked Data

• gnomAD v4: X-101412398-T-C
• MyVariant Identifiers: chrX:g.100667386T>C (hg19) ; chrX:g.101412398T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101412398T>C , CM000685.2:g.101412398T>C	GRCh38
NC_000023.10:g.100667386T>C , CM000685.1:g.100667386T>C	GRCh37
NC_000023.9:g.100554042T>C	NCBI36
NG_007119.1:g.566A>G , LRG_672:g.566A>G
NG_016327.1:g.9196T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316594.6:c.410T>C (HNRNPH2) MANE Select	ENSP00000361927.2:p.Val137Ala
ENST00000316594.5:c.410T>C (HNRNPH2)	ENSP00000361927.2:p.Val137Ala
NM_001032393.2:c.410T>C (HNRNPH2)	NP_001027565.1:p.Val137Ala
NM_001199973.1:c.*406T>C (RPL36A-HNRNPH2)	NP_001186902.1:n.*406T>C
NM_001199974.1:c.*406T>C (RPL36A-HNRNPH2)	NP_001186903.1:n.*406T>C
NM_019597.4:c.410T>C (HNRNPH2)	NP_062543.1:p.Val137Ala
NM_001199973.2:c.*406T>C (RPL36A-HNRNPH2)	NP_001186902.2:n.*406T>C
NM_001199974.2:c.*406T>C (RPL36A-HNRNPH2)	NP_001186903.2:n.*406T>C
NM_019597.5:c.410T>C (HNRNPH2) MANE Select	NP_062543.1:p.Val137Ala
NM_001032393.3:c.410T>C (HNRNPH2)	NP_001027565.1:p.Val137Ala