Canonical Allele Identifier: CA346112965

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26191548-A-G
• MyVariant Identifiers: chr2:g.26414417A>G (hg19) ; chr2:g.26191548A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191548A>G , CM000664.2:g.26191548A>G	GRCh38
NC_000002.11:g.26414417A>G , CM000664.1:g.26414417A>G	GRCh37
NC_000002.10:g.26267921A>G	NCBI36
NG_007121.1:g.58073T>C
NG_007121.2:g.58074T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2081T>C (HADHA) MANE Select	ENSP00000370023.3:p.Leu694Ser
ENST00000492433.2:c.2081T>C (HADHA)	ENSP00000438039.2:p.Leu694Ser
ENST00000643057.1:c.*1972T>C (HADHA)	ENSP00000493761.1:n.*1972T>C
ENST00000643063.1:c.*1127T>C (HADHA)	ENSP00000495353.1:n.*1127T>C
ENST00000643233.1:c.*1972T>C (HADHA)	ENSP00000493880.1:n.*1972T>C
ENST00000644428.1:c.*705T>C (HADHA)	ENSP00000495560.1:n.*705T>C
ENST00000645274.1:c.1976T>C (HADHA)	ENSP00000493996.1:p.Leu659Ser
ENST00000646031.1:c.1440T>C (HADHA)
ENST00000646483.1:c.1947T>C (HADHA)	ENSP00000496185.1:n.1947T>C
ENST00000380649.7:c.2081T>C (HADHA)	ENSP00000370023.3:p.Leu694Ser
ENST00000492433.1:c.539T>C (HADHA)	ENSP00000438039.1:p.Leu180Ser
NM_000182.4:c.2081T>C (HADHA)	NP_000173.2:p.Leu694Ser
XM_011532567.1:c.1683+4233A>G (GAREM2)	XP_011530869.1:n.1683+4233A>G
XM_011532567.3:c.1683+4233A>G (GAREM2)	XP_011530869.1:n.1683+4233A>G
NM_000182.5:c.2081T>C (HADHA) MANE Select	NP_000173.2:p.Leu694Ser