Canonical Allele Identifier: CA16044163

Gene: MDH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76063579C>T , CM000669.2:g.76063579C>T	GRCh38
NC_000007.13:g.75692897C>T , CM000669.1:g.75692897C>T	GRCh37
NC_000007.12:g.75530833C>T	NCBI36
NG_052976.1:g.20561C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005918.4:c.620C>T MANE Select	NP_005909.2:p.Pro207Leu
ENST00000315758.10:c.620C>T MANE Select	ENSP00000327070.5:p.Pro207Leu
NM_001282403.1:c.494C>T	NP_001269332.1:p.Pro165Leu
NM_001282403.2:c.494C>T	NP_001269332.1:p.Pro165Leu
NM_001282404.1:c.299C>T	NP_001269333.1:p.Pro100Leu
NM_001282404.2:c.299C>T	NP_001269333.1:p.Pro100Leu
NM_005918.3:c.620C>T	NP_005909.2:p.Pro207Leu
ENST00000315758.9:c.620C>T	ENSP00000327070.5:p.Pro207Leu
ENST00000424167.2:n.196C>T
ENST00000432020.2:c.494C>T	ENSP00000408649.2:p.Pro165Leu
ENST00000443006.5:c.299C>T	ENSP00000416929.1:p.Pro100Leu