Canonical Allele Identifier: CA3016298

Gene: PDHA2

Linked Data

• ClinVar Variation Id: 446251
• ClinVar RCV Id: RCV000523769 ; RCV001797092 ; RCV002221240
• dbSNP Id: rs200969445
• ExAC: 4:96761980 A / G
• gnomAD v2: 4-96761980-A-G
• gnomAD v3: 4-95840829-A-G
• gnomAD v4: 4-95840829-A-G
• MyVariant Identifiers: chr4:g.96761980A>G (hg19) ; chr4:g.95840829A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.95840829A>G , CM000666.2:g.95840829A>G	GRCh38
NC_000004.11:g.96761980A>G , CM000666.1:g.96761980A>G	GRCh37
NC_000004.10:g.96981003A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295266.6:c.679A>G MANE Select	ENSP00000295266.4:p.Met227Val
ENST00000295266.5:c.679A>G	ENSP00000295266.4:p.Met227Val
NM_005390.4:c.679A>G	NP_005381.1:p.Met227Val
NM_005390.5:c.679A>G MANE Select	NP_005381.1:p.Met227Val