Canonical Allele Identifier: CA1559618

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs758726265
• ExAC: 2:26424086 C / G
• gnomAD v2: 2-26424086-C-G
• gnomAD v4: 2-26201217-C-G
• MyVariant Identifiers: chr2:g.26424086C>G (hg19) ; chr2:g.26201217C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201217C>G , CM000664.2:g.26201217C>G	GRCh38
NC_000002.11:g.26424086C>G , CM000664.1:g.26424086C>G	GRCh37
NC_000002.10:g.26277590C>G	NCBI36
NG_007121.1:g.48404G>C
NG_007121.2:g.48405G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1324G>C (HADHA) MANE Select	ENSP00000370023.3:p.Asp442His
ENST00000492433.2:c.1324G>C (HADHA)	ENSP00000438039.2:p.Asp442His
ENST00000643057.1:c.*1215G>C (HADHA)	ENSP00000493761.1:n.*1215G>C
ENST00000643063.1:c.*370G>C (HADHA)	ENSP00000495353.1:n.*370G>C
ENST00000643233.1:c.*1215G>C (HADHA)	ENSP00000493880.1:n.*1215G>C
ENST00000644428.1:c.1324G>C (HADHA)	ENSP00000495560.1:p.Asp442His
ENST00000645274.1:c.1219G>C (HADHA)	ENSP00000493996.1:p.Asp407His
ENST00000646031.1:c.683G>C (HADHA)
ENST00000646483.1:c.1190G>C (HADHA)	ENSP00000496185.1:n.1190G>C
ENST00000380649.7:c.1324G>C (HADHA)	ENSP00000370023.3:p.Asp442His
NM_000182.4:c.1324G>C (HADHA)	NP_000173.2:p.Asp442His
XM_011532567.1:c.1684-1016C>G (GAREM2)	XP_011530869.1:n.1684-1016C>G
XM_011532567.3:c.1684-1016C>G (GAREM2)	XP_011530869.1:n.1684-1016C>G
NM_000182.5:c.1324G>C (HADHA) MANE Select	NP_000173.2:p.Asp442His