Canonical Allele Identifier: CA1559530

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 754048
• ClinVar RCV Id: RCV002542245
• dbSNP Id: rs765162716
• ExAC: 2:26418027 G / T
• gnomAD v2: 2-26418027-G-T
• gnomAD v3: 2-26195158-G-T
• gnomAD v4: 2-26195158-G-T
• MyVariant Identifiers: chr2:g.26418027G>T (hg19) ; chr2:g.26195158G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195158G>T , CM000664.2:g.26195158G>T	GRCh38
NC_000002.11:g.26418027G>T , CM000664.1:g.26418027G>T	GRCh37
NC_000002.10:g.26271531G>T	NCBI36
NG_007121.1:g.54463C>A
NG_007121.2:g.54464C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1554C>A (HADHA) MANE Select	ENSP00000370023.3:p.Ser518=
ENST00000492433.2:c.1554C>A (HADHA)	ENSP00000438039.2:p.Ser518=
ENST00000643057.1:c.*1445C>A (HADHA)	ENSP00000493761.1:n.*1445C>A
ENST00000643063.1:c.*600C>A (HADHA)	ENSP00000495353.1:n.*600C>A
ENST00000643233.1:c.*1445C>A (HADHA)	ENSP00000493880.1:n.*1445C>A
ENST00000644428.1:c.*178C>A (HADHA)	ENSP00000495560.1:n.*178C>A
ENST00000645274.1:c.1449C>A (HADHA)	ENSP00000493996.1:p.Ser483=
ENST00000646031.1:c.913C>A (HADHA)
ENST00000646483.1:c.1420C>A (HADHA)	ENSP00000496185.1:n.1420C>A
ENST00000380649.7:c.1554C>A (HADHA)	ENSP00000370023.3:p.Ser518=
ENST00000492433.1:c.12C>A (HADHA)	ENSP00000438039.1:p.Ser4=
NM_000182.4:c.1554C>A (HADHA)	NP_000173.2:p.Ser518=
XM_011532567.1:c.1684-7075G>T (GAREM2)	XP_011530869.1:n.1684-7075G>T
XM_011532567.3:c.1684-7075G>T (GAREM2)	XP_011530869.1:n.1684-7075G>T
NM_000182.5:c.1554C>A (HADHA) MANE Select	NP_000173.2:p.Ser518=