LDH info

Canonical Allele Identifier: CA296169
Gene: MAP2K2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 180912
ClinVar RCV Id: RCV000158040
dbSNP Id: rs730880518

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4117532C>A , CM000681.2:g.4117532C>A GRCh38
NC_000019.9:g.4117530C>A , CM000681.1:g.4117530C>A GRCh37
NC_000019.8:g.4068530C>A NCBI36
NG_007996.1:g.11597G>T , LRG_750:g.11597G>T

Transcript Alleles

HGVS Amino-acid change
NM_030662.3:c.190G>T , LRG_750t1:c.190G>T NP_109587.1:p.Val64Phe
XM_006722799.2:c.190G>T XP_006722862.1:p.Val64Phe
XM_017026989.1:c.190G>T XP_016882478.1:p.Val64Phe
XM_017026990.1:c.190G>T XP_016882479.1:p.Val64Phe
XM_017026991.1:c.190G>T XP_016882480.1:p.Val64Phe
NM_030662.4:c.190G>T VV MANE Preferred NP_109587.1:p.Val64Phe
ENST00000262948.9:c.190G>T ENSP00000262948.3:p.Val64Phe
ENST00000394867.8:c.-102G>T ENSP00000378336.1:p.=
ENST00000599345.1:n.387G>T