Canonical Allele Identifier: CA392937555
Gene: MAP2K1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66487270T>A , CM000677.2:g.66487270T>A GRCh38
NC_000015.9:g.66779608T>A , CM000677.1:g.66779608T>A GRCh37
NC_000015.8:g.64566662T>A NCBI36
NG_008305.1:g.105398T>A , LRG_725:g.105398T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.670T>A ENSP00000508681.1:p.Cys224Ser
ENST00000685172.1:c.938T>A ENSP00000509604.1:p.Leu313Ter
ENST00000685763.1:c.791T>A ENSP00000509016.1:p.Leu264Ter
ENST00000686347.1:c.611T>A ENSP00000509027.1:p.Leu204Ter
ENST00000687191.1:n.1296T>A
ENST00000687481.1:n.353T>A
ENST00000688689.1:n.693T>A
ENST00000689951.1:c.989T>A ENSP00000509308.1:p.Leu330Ter
ENST00000691077.1:c.*175T>A ENSP00000509843.1:n.*175T>A
ENST00000691576.1:c.809T>A ENSP00000510066.1:p.Leu270Ter
ENST00000691937.1:c.896-1945T>A ENSP00000508768.1:n.896-1945T>A
ENST00000692487.1:c.*175T>A ENSP00000509534.1:n.*175T>A
ENST00000692683.1:c.872T>A ENSP00000508437.1:p.Leu291Ter
ENST00000693150.1:c.794T>A ENSP00000510309.1:p.Leu265Ter
ENST00000307102.10:c.938T>A MANE Select ENSP00000302486.5:p.Leu313Ter
ENST00000307102.9:c.938T>A ENSP00000302486.4:p.Leu313Ter
ENST00000566326.1:c.410T>A ENSP00000456438.1:p.Leu137Ter
NM_002755.3:c.938T>A , LRG_725t1:c.938T>A NP_002746.1:p.Leu313Ter
XM_011521783.1:c.872T>A XP_011520085.1:p.Leu291Ter
XM_011521783.3:c.872T>A XP_011520085.1:p.Leu291Ter
XM_017022411.2:c.860T>A XP_016877900.1:p.Leu287Ter
XM_017022412.1:c.794T>A XP_016877901.1:p.Leu265Ter
XM_017022413.1:c.410T>A XP_016877902.1:p.Leu137Ter
NM_002755.4:c.938T>A MANE Select NP_002746.1:p.Leu313Ter