Canonical Allele Identifier: CA531391585

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1481873913
• gnomAD v2: 2-26417918-G-A
• gnomAD v4: 2-26195049-G-A
• MyVariant Identifiers: chr2:g.26417918G>A (hg19) ; chr2:g.26195049G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195049G>A , CM000664.2:g.26195049G>A	GRCh38
NC_000002.11:g.26417918G>A , CM000664.1:g.26417918G>A	GRCh37
NC_000002.10:g.26271422G>A	NCBI36
NG_007121.1:g.54572C>T
NG_007121.2:g.54573C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1620+43C>T (HADHA) MANE Select	ENSP00000370023.3:n.1620+43C>T
ENST00000492433.2:c.1620+43C>T (HADHA)	ENSP00000438039.2:n.1620+43C>T
ENST00000643057.1:c.*1511+43C>T (HADHA)	ENSP00000493761.1:n.*1511+43C>T
ENST00000643063.1:c.*666+43C>T (HADHA)	ENSP00000495353.1:n.*666+43C>T
ENST00000643233.1:c.*1511+43C>T (HADHA)	ENSP00000493880.1:n.*1511+43C>T
ENST00000644428.1:c.*244+43C>T (HADHA)	ENSP00000495560.1:n.*244+43C>T
ENST00000645274.1:c.1515+43C>T (HADHA)	ENSP00000493996.1:n.1515+43C>T
ENST00000646031.1:c.979+43C>T (HADHA)
ENST00000646483.1:c.1486+43C>T (HADHA)	ENSP00000496185.1:n.1486+43C>T
ENST00000380649.7:c.1620+43C>T (HADHA)	ENSP00000370023.3:n.1620+43C>T
ENST00000492433.1:c.78+43C>T (HADHA)	ENSP00000438039.1:n.78+43C>T
NM_000182.4:c.1620+43C>T (HADHA)	NP_000173.2:n.1620+43C>T
XM_011532567.1:c.1684-7184G>A (GAREM2)	XP_011530869.1:n.1684-7184G>A
XM_011532567.3:c.1684-7184G>A (GAREM2)	XP_011530869.1:n.1684-7184G>A
NM_000182.5:c.1620+43C>T (HADHA) MANE Select	NP_000173.2:n.1620+43C>T