Canonical Allele Identifier: CA346117834

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1483418230
• gnomAD v2: 2-26416524-G-C
• gnomAD v4: 2-26193655-G-C
• MyVariant Identifiers: chr2:g.26416524G>C (hg19) ; chr2:g.26193655G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26193655G>C , CM000664.2:g.26193655G>C	GRCh38
NC_000002.11:g.26416524G>C , CM000664.1:g.26416524G>C	GRCh37
NC_000002.10:g.26270028G>C	NCBI36
NG_007121.1:g.55966C>G
NG_007121.2:g.55967C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1807C>G (HADHA) MANE Select	ENSP00000370023.3:p.Leu603Val
ENST00000492433.2:c.1807C>G (HADHA)	ENSP00000438039.2:p.Leu603Val
ENST00000643057.1:c.*1698C>G (HADHA)	ENSP00000493761.1:n.*1698C>G
ENST00000643063.1:c.*853C>G (HADHA)	ENSP00000495353.1:n.*853C>G
ENST00000643233.1:c.*1698C>G (HADHA)	ENSP00000493880.1:n.*1698C>G
ENST00000644428.1:c.*431C>G (HADHA)	ENSP00000495560.1:n.*431C>G
ENST00000645274.1:c.1702C>G (HADHA)	ENSP00000493996.1:p.Leu568Val
ENST00000646031.1:c.1166C>G (HADHA)
ENST00000646483.1:c.1673C>G (HADHA)	ENSP00000496185.1:n.1673C>G
ENST00000380649.7:c.1807C>G (HADHA)	ENSP00000370023.3:p.Leu603Val
ENST00000492433.1:c.265C>G (HADHA)	ENSP00000438039.1:p.Leu89Val
NM_000182.4:c.1807C>G (HADHA)	NP_000173.2:p.Leu603Val
XM_011532567.1:c.1683+6340G>C (GAREM2)	XP_011530869.1:n.1683+6340G>C
XM_011532567.3:c.1683+6340G>C (GAREM2)	XP_011530869.1:n.1683+6340G>C
NM_000182.5:c.1807C>G (HADHA) MANE Select	NP_000173.2:p.Leu603Val