Canonical Allele Identifier: CA346118406

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1408040309
• gnomAD v2: 2-26416608-T-A
• gnomAD v3: 2-26193739-T-A
• gnomAD v4: 2-26193739-T-A
• MyVariant Identifiers: chr2:g.26416608T>A (hg19) ; chr2:g.26193739T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26193739T>A , CM000664.2:g.26193739T>A	GRCh38
NC_000002.11:g.26416608T>A , CM000664.1:g.26416608T>A	GRCh37
NC_000002.10:g.26270112T>A	NCBI36
NG_007121.1:g.55882A>T
NG_007121.2:g.55883A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1723A>T (HADHA) MANE Select	ENSP00000370023.3:p.Thr575Ser
ENST00000492433.2:c.1723A>T (HADHA)	ENSP00000438039.2:p.Thr575Ser
ENST00000643057.1:c.*1614A>T (HADHA)	ENSP00000493761.1:n.*1614A>T
ENST00000643063.1:c.*769A>T (HADHA)	ENSP00000495353.1:n.*769A>T
ENST00000643233.1:c.*1614A>T (HADHA)	ENSP00000493880.1:n.*1614A>T
ENST00000644428.1:c.*347A>T (HADHA)	ENSP00000495560.1:n.*347A>T
ENST00000645274.1:c.1618A>T (HADHA)	ENSP00000493996.1:p.Thr540Ser
ENST00000646031.1:c.1082A>T (HADHA)
ENST00000646483.1:c.1589A>T (HADHA)	ENSP00000496185.1:n.1589A>T
ENST00000380649.7:c.1723A>T (HADHA)	ENSP00000370023.3:p.Thr575Ser
ENST00000492433.1:c.181A>T (HADHA)	ENSP00000438039.1:p.Thr61Ser
NM_000182.4:c.1723A>T (HADHA)	NP_000173.2:p.Thr575Ser
XM_011532567.1:c.1683+6424T>A (GAREM2)	XP_011530869.1:n.1683+6424T>A
XM_011532567.3:c.1683+6424T>A (GAREM2)	XP_011530869.1:n.1683+6424T>A
NM_000182.5:c.1723A>T (HADHA) MANE Select	NP_000173.2:p.Thr575Ser