Canonical Allele Identifier: CA425200401

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 1615339
• ClinVar RCV Id: RCV002081391
• dbSNP Id: rs1308806038
• gnomAD v2: 2-26416600-G-A
• gnomAD v3: 2-26193731-G-A
• gnomAD v4: 2-26193731-G-A
• MyVariant Identifiers: chr2:g.26416600G>A (hg19) ; chr2:g.26193731G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26193731G>A , CM000664.2:g.26193731G>A	GRCh38
NC_000002.11:g.26416600G>A , CM000664.1:g.26416600G>A	GRCh37
NC_000002.10:g.26270104G>A	NCBI36
NG_007121.1:g.55890C>T
NG_007121.2:g.55891C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1731C>T (HADHA) MANE Select	ENSP00000370023.3:p.Ser577=
ENST00000492433.2:c.1731C>T (HADHA)	ENSP00000438039.2:p.Ser577=
ENST00000643057.1:c.*1622C>T (HADHA)	ENSP00000493761.1:n.*1622C>T
ENST00000643063.1:c.*777C>T (HADHA)	ENSP00000495353.1:n.*777C>T
ENST00000643233.1:c.*1622C>T (HADHA)	ENSP00000493880.1:n.*1622C>T
ENST00000644428.1:c.*355C>T (HADHA)	ENSP00000495560.1:n.*355C>T
ENST00000645274.1:c.1626C>T (HADHA)	ENSP00000493996.1:p.Ser542=
ENST00000646031.1:c.1090C>T (HADHA)
ENST00000646483.1:c.1597C>T (HADHA)	ENSP00000496185.1:n.1597C>T
ENST00000380649.7:c.1731C>T (HADHA)	ENSP00000370023.3:p.Ser577=
ENST00000492433.1:c.189C>T (HADHA)	ENSP00000438039.1:p.Ser63=
NM_000182.4:c.1731C>T (HADHA)	NP_000173.2:p.Ser577=
XM_011532567.1:c.1683+6416G>A (GAREM2)	XP_011530869.1:n.1683+6416G>A
XM_011532567.3:c.1683+6416G>A (GAREM2)	XP_011530869.1:n.1683+6416G>A
NM_000182.5:c.1731C>T (HADHA) MANE Select	NP_000173.2:p.Ser577=