Canonical Allele Identifier: CA1559370

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 1202151
• ClinVar RCV Id: RCV001567740 ; RCV002488388 ; RCV001836450 ; RCV002570765 ; RCV004536198
• dbSNP Id: rs138966725
• ExAC: 2:26414367 G / T
• gnomAD v2: 2-26414367-G-T
• gnomAD v3: 2-26191498-G-T
• gnomAD v4: 2-26191498-G-T
• MyVariant Identifiers: chr2:g.26414367G>T (hg19) ; chr2:g.26191498G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191498G>T , CM000664.2:g.26191498G>T	GRCh38
NC_000002.11:g.26414367G>T , CM000664.1:g.26414367G>T	GRCh37
NC_000002.10:g.26267871G>T	NCBI36
NG_007121.1:g.58123C>A
NG_007121.2:g.58124C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2131C>A (HADHA) MANE Select	ENSP00000370023.3:p.Pro711Thr
ENST00000492433.2:c.2131C>A (HADHA)	ENSP00000438039.2:p.Pro711Thr
ENST00000643057.1:c.*2022C>A (HADHA)	ENSP00000493761.1:n.*2022C>A
ENST00000643063.1:c.*1177C>A (HADHA)	ENSP00000495353.1:n.*1177C>A
ENST00000643233.1:c.*2022C>A (HADHA)	ENSP00000493880.1:n.*2022C>A
ENST00000644428.1:c.*755C>A (HADHA)	ENSP00000495560.1:n.*755C>A
ENST00000645274.1:c.2026C>A (HADHA)	ENSP00000493996.1:p.Pro676Thr
ENST00000646031.1:c.1490C>A (HADHA)
ENST00000646483.1:c.1997C>A (HADHA)	ENSP00000496185.1:n.1997C>A
ENST00000380649.7:c.2131C>A (HADHA)	ENSP00000370023.3:p.Pro711Thr
ENST00000492433.1:c.589C>A (HADHA)	ENSP00000438039.1:p.Pro197Thr
NM_000182.4:c.2131C>A (HADHA)	NP_000173.2:p.Pro711Thr
XM_011532567.1:c.1683+4183G>T (GAREM2)	XP_011530869.1:n.1683+4183G>T
XM_011532567.3:c.1683+4183G>T (GAREM2)	XP_011530869.1:n.1683+4183G>T
NM_000182.5:c.2131C>A (HADHA) MANE Select	NP_000173.2:p.Pro711Thr