Canonical Allele Identifier: CA346120870

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26418005C>G (hg19) ; chr2:g.26195136C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195136C>G , CM000664.2:g.26195136C>G	GRCh38
NC_000002.11:g.26418005C>G , CM000664.1:g.26418005C>G	GRCh37
NC_000002.10:g.26271509C>G	NCBI36
NG_007121.1:g.54485G>C
NG_007121.2:g.54486G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1576G>C (HADHA) MANE Select	ENSP00000370023.3:p.Val526Leu
ENST00000492433.2:c.1576G>C (HADHA)	ENSP00000438039.2:p.Val526Leu
ENST00000643057.1:c.*1467G>C (HADHA)	ENSP00000493761.1:n.*1467G>C
ENST00000643063.1:c.*622G>C (HADHA)	ENSP00000495353.1:n.*622G>C
ENST00000643233.1:c.*1467G>C (HADHA)	ENSP00000493880.1:n.*1467G>C
ENST00000644428.1:c.*200G>C (HADHA)	ENSP00000495560.1:n.*200G>C
ENST00000645274.1:c.1471G>C (HADHA)	ENSP00000493996.1:p.Val491Leu
ENST00000646031.1:c.935G>C (HADHA)
ENST00000646483.1:c.1442G>C (HADHA)	ENSP00000496185.1:n.1442G>C
ENST00000380649.7:c.1576G>C (HADHA)	ENSP00000370023.3:p.Val526Leu
ENST00000492433.1:c.34G>C (HADHA)	ENSP00000438039.1:p.Val12Leu
NM_000182.4:c.1576G>C (HADHA)	NP_000173.2:p.Val526Leu
XM_011532567.1:c.1684-7097C>G (GAREM2)	XP_011530869.1:n.1684-7097C>G
XM_011532567.3:c.1684-7097C>G (GAREM2)	XP_011530869.1:n.1684-7097C>G
NM_000182.5:c.1576G>C (HADHA) MANE Select	NP_000173.2:p.Val526Leu