Canonical Allele Identifier: CA456072011
Community Standard Title: NM_005918.4(MDH2):c.6C>T (p.Leu2=)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.76048166C>T , CM000669.2:g.76048166C>T GRCh38
NC_000007.13:g.75677484C>T , CM000669.1:g.75677484C>T GRCh37
NC_000007.12:g.75515420C>T NCBI36
NG_052976.1:g.5148C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005918.4:c.6C>T (MDH2) MANE Select NP_005909.2:p.Leu2=
ENST00000315758.10:c.6C>T (MDH2) MANE Select ENSP00000327070.5:p.Leu2=
NM_001282403.1:c.6C>T (MDH2) NP_001269332.1:p.Leu2=
NM_001282403.2:c.6C>T (MDH2) NP_001269332.1:p.Leu2=
NM_001282404.1:c.-147C>T (MDH2) NP_001269333.1:n.-147C>T
NM_001282404.2:c.-147C>T (MDH2) NP_001269333.1:n.-147C>T
NM_005918.3:c.6C>T (MDH2) NP_005909.2:p.Leu2=
NR_104165.1:n.148C>T (MDH2)
NR_104165.2:n.61C>T (MDH2)
ENST00000315758.9:c.6C>T (MDH2) ENSP00000327070.5:p.Leu2=
ENST00000432020.2:c.6C>T (MDH2) ENSP00000408649.2:p.Leu2=
ENST00000443006.5:c.-147C>T (MDH2) ENSP00000416929.1:n.-147C>T
ENST00000461263.2:c.6C>T (MDH2) ENSP00000475583.1:p.Leu2=
ENST00000461665.5:n.31C>T (MDH2)
ENST00000490105.1:n.6C>T (MDH2)
XM_017012298.2:c.-5+396G>A (STYXL1) XP_016867787.1:n.-5+396G>A