Canonical Allele Identifier: CA346120428

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1265893765
• gnomAD v4: 2-26195106-T-C
• MyVariant Identifiers: chr2:g.26417975T>C (hg19) ; chr2:g.26195106T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195106T>C , CM000664.2:g.26195106T>C	GRCh38
NC_000002.11:g.26417975T>C , CM000664.1:g.26417975T>C	GRCh37
NC_000002.10:g.26271479T>C	NCBI36
NG_007121.1:g.54515A>G
NG_007121.2:g.54516A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1606A>G (HADHA) MANE Select	ENSP00000370023.3:p.Ile536Val
ENST00000492433.2:c.1606A>G (HADHA)	ENSP00000438039.2:p.Ile536Val
ENST00000643057.1:c.*1497A>G (HADHA)	ENSP00000493761.1:n.*1497A>G
ENST00000643063.1:c.*652A>G (HADHA)	ENSP00000495353.1:n.*652A>G
ENST00000643233.1:c.*1497A>G (HADHA)	ENSP00000493880.1:n.*1497A>G
ENST00000644428.1:c.*230A>G (HADHA)	ENSP00000495560.1:n.*230A>G
ENST00000645274.1:c.1501A>G (HADHA)	ENSP00000493996.1:p.Ile501Val
ENST00000646031.1:c.965A>G (HADHA)
ENST00000646483.1:c.1472A>G (HADHA)	ENSP00000496185.1:n.1472A>G
ENST00000380649.7:c.1606A>G (HADHA)	ENSP00000370023.3:p.Ile536Val
ENST00000492433.1:c.64A>G (HADHA)	ENSP00000438039.1:p.Ile22Val
NM_000182.4:c.1606A>G (HADHA)	NP_000173.2:p.Ile536Val
XM_011532567.1:c.1684-7127T>C (GAREM2)	XP_011530869.1:n.1684-7127T>C
XM_011532567.3:c.1684-7127T>C (GAREM2)	XP_011530869.1:n.1684-7127T>C
NM_000182.5:c.1606A>G (HADHA) MANE Select	NP_000173.2:p.Ile536Val