Canonical Allele Identifier: CA346126913

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1200054633
• gnomAD v2: 2-26424129-G-C
• gnomAD v4: 2-26201260-G-C
• MyVariant Identifiers: chr2:g.26424129G>C (hg19) ; chr2:g.26201260G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201260G>C , CM000664.2:g.26201260G>C	GRCh38
NC_000002.11:g.26424129G>C , CM000664.1:g.26424129G>C	GRCh37
NC_000002.10:g.26277633G>C	NCBI36
NG_007121.1:g.48361C>G
NG_007121.2:g.48362C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1281C>G (HADHA) MANE Select	ENSP00000370023.3:p.Ser427Arg
ENST00000492433.2:c.1281C>G (HADHA)	ENSP00000438039.2:p.Ser427Arg
ENST00000643057.1:c.*1172C>G (HADHA)	ENSP00000493761.1:n.*1172C>G
ENST00000643063.1:c.*327C>G (HADHA)	ENSP00000495353.1:n.*327C>G
ENST00000643233.1:c.*1172C>G (HADHA)	ENSP00000493880.1:n.*1172C>G
ENST00000644428.1:c.1281C>G (HADHA)	ENSP00000495560.1:p.Ser427Arg
ENST00000645274.1:c.1176C>G (HADHA)	ENSP00000493996.1:p.Ser392Arg
ENST00000646031.1:c.640C>G (HADHA)
ENST00000646483.1:c.1147C>G (HADHA)	ENSP00000496185.1:n.1147C>G
ENST00000380649.7:c.1281C>G (HADHA)	ENSP00000370023.3:p.Ser427Arg
NM_000182.4:c.1281C>G (HADHA)	NP_000173.2:p.Ser427Arg
XM_011532567.1:c.1684-973G>C (GAREM2)	XP_011530869.1:n.1684-973G>C
XM_011532567.3:c.1684-973G>C (GAREM2)	XP_011530869.1:n.1684-973G>C
NM_000182.5:c.1281C>G (HADHA) MANE Select	NP_000173.2:p.Ser427Arg