Canonical Allele Identifier: CA44384309

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs781509327
• MyVariant Identifiers: chr2:g.26424168C>G (hg19) ; chr2:g.26201299C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201299C>G , CM000664.2:g.26201299C>G	GRCh38
NC_000002.11:g.26424168C>G , CM000664.1:g.26424168C>G	GRCh37
NC_000002.10:g.26277672C>G	NCBI36
NG_007121.1:g.48322G>C
NG_007121.2:g.48323G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1242G>C (HADHA) MANE Select	ENSP00000370023.3:p.Lys414Asn
ENST00000492433.2:c.1242G>C (HADHA)	ENSP00000438039.2:p.Lys414Asn
ENST00000643057.1:c.*1133G>C (HADHA)	ENSP00000493761.1:n.*1133G>C
ENST00000643063.1:c.*288G>C (HADHA)	ENSP00000495353.1:n.*288G>C
ENST00000643233.1:c.*1133G>C (HADHA)	ENSP00000493880.1:n.*1133G>C
ENST00000644428.1:c.1242G>C (HADHA)	ENSP00000495560.1:p.Lys414Asn
ENST00000645274.1:c.1137G>C (HADHA)	ENSP00000493996.1:p.Lys379Asn
ENST00000646031.1:c.601G>C (HADHA)
ENST00000646483.1:c.1108G>C (HADHA)	ENSP00000496185.1:n.1108G>C
ENST00000380649.7:c.1242G>C (HADHA)	ENSP00000370023.3:p.Lys414Asn
NM_000182.4:c.1242G>C (HADHA)	NP_000173.2:p.Lys414Asn
XM_011532567.1:c.1684-934C>G (GAREM2)	XP_011530869.1:n.1684-934C>G
XM_011532567.3:c.1684-934C>G (GAREM2)	XP_011530869.1:n.1684-934C>G
NM_000182.5:c.1242G>C (HADHA) MANE Select	NP_000173.2:p.Lys414Asn