Canonical Allele Identifier: CA346117999

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26416547A>C (hg19) ; chr2:g.26193678A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26193678A>C , CM000664.2:g.26193678A>C	GRCh38
NC_000002.11:g.26416547A>C , CM000664.1:g.26416547A>C	GRCh37
NC_000002.10:g.26270051A>C	NCBI36
NG_007121.1:g.55943T>G
NG_007121.2:g.55944T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1784T>G (HADHA) MANE Select	ENSP00000370023.3:p.Val595Gly
ENST00000492433.2:c.1784T>G (HADHA)	ENSP00000438039.2:p.Val595Gly
ENST00000643057.1:c.*1675T>G (HADHA)	ENSP00000493761.1:n.*1675T>G
ENST00000643063.1:c.*830T>G (HADHA)	ENSP00000495353.1:n.*830T>G
ENST00000643233.1:c.*1675T>G (HADHA)	ENSP00000493880.1:n.*1675T>G
ENST00000644428.1:c.*408T>G (HADHA)	ENSP00000495560.1:n.*408T>G
ENST00000645274.1:c.1679T>G (HADHA)	ENSP00000493996.1:p.Val560Gly
ENST00000646031.1:c.1143T>G (HADHA)
ENST00000646483.1:c.1650T>G (HADHA)	ENSP00000496185.1:n.1650T>G
ENST00000380649.7:c.1784T>G (HADHA)	ENSP00000370023.3:p.Val595Gly
ENST00000492433.1:c.242T>G (HADHA)	ENSP00000438039.1:p.Val81Gly
NM_000182.4:c.1784T>G (HADHA)	NP_000173.2:p.Val595Gly
XM_011532567.1:c.1683+6363A>C (GAREM2)	XP_011530869.1:n.1683+6363A>C
XM_011532567.3:c.1683+6363A>C (GAREM2)	XP_011530869.1:n.1683+6363A>C
NM_000182.5:c.1784T>G (HADHA) MANE Select	NP_000173.2:p.Val595Gly