Canonical Allele Identifier: CA346114725

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 1450039
• ClinVar RCV Id: RCV001989943
• dbSNP Id: rs1214955457
• gnomAD v2: 2-26415221-T-C
• gnomAD v3: 2-26192352-T-C
• gnomAD v4: 2-26192352-T-C
• MyVariant Identifiers: chr2:g.26415221T>C (hg19) ; chr2:g.26192352T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192352T>C , CM000664.2:g.26192352T>C	GRCh38
NC_000002.11:g.26415221T>C , CM000664.1:g.26415221T>C	GRCh37
NC_000002.10:g.26268725T>C	NCBI36
NG_007121.1:g.57269A>G
NG_007121.2:g.57270A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1958A>G (HADHA) MANE Select	ENSP00000370023.3:p.Asp653Gly
ENST00000492433.2:c.1958A>G (HADHA)	ENSP00000438039.2:p.Asp653Gly
ENST00000643057.1:c.*1849A>G (HADHA)	ENSP00000493761.1:n.*1849A>G
ENST00000643063.1:c.*1004A>G (HADHA)	ENSP00000495353.1:n.*1004A>G
ENST00000643233.1:c.*1849A>G (HADHA)	ENSP00000493880.1:n.*1849A>G
ENST00000644428.1:c.*582A>G (HADHA)	ENSP00000495560.1:n.*582A>G
ENST00000645274.1:c.1853A>G (HADHA)	ENSP00000493996.1:p.Asp618Gly
ENST00000646031.1:c.1317A>G (HADHA)
ENST00000646483.1:c.1824A>G (HADHA)	ENSP00000496185.1:n.1824A>G
ENST00000380649.7:c.1958A>G (HADHA)	ENSP00000370023.3:p.Asp653Gly
ENST00000492433.1:c.416A>G (HADHA)	ENSP00000438039.1:p.Asp139Gly
NM_000182.4:c.1958A>G (HADHA)	NP_000173.2:p.Asp653Gly
XM_011532567.1:c.1683+5037T>C (GAREM2)	XP_011530869.1:n.1683+5037T>C
XM_011532567.3:c.1683+5037T>C (GAREM2)	XP_011530869.1:n.1683+5037T>C
NM_000182.5:c.1958A>G (HADHA) MANE Select	NP_000173.2:p.Asp653Gly