Canonical Allele Identifier: CA392937435
Gene: MAP2K1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485186T>C , CM000677.2:g.66485186T>C GRCh38
NC_000015.9:g.66777524T>C , CM000677.1:g.66777524T>C GRCh37
NC_000015.8:g.64564578T>C NCBI36
NG_008305.1:g.103314T>C , LRG_725:g.103314T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2042T>C ENSP00000508681.1:n.628-2042T>C
ENST00000685172.1:c.890T>C ENSP00000509604.1:p.Leu297Pro
ENST00000685763.1:c.743T>C ENSP00000509016.1:p.Leu248Pro
ENST00000686347.1:c.569-2042T>C ENSP00000509027.1:n.569-2042T>C
ENST00000687191.1:n.1248T>C
ENST00000687481.1:n.305T>C
ENST00000689951.1:c.941T>C ENSP00000509308.1:p.Leu314Pro
ENST00000691077.1:c.*127T>C ENSP00000509843.1:n.*127T>C
ENST00000691576.1:c.761T>C ENSP00000510066.1:p.Leu254Pro
ENST00000691937.1:c.890T>C ENSP00000508768.1:p.Leu297Pro
ENST00000692487.1:c.*127T>C ENSP00000509534.1:n.*127T>C
ENST00000692683.1:c.824T>C ENSP00000508437.1:p.Leu275Pro
ENST00000693150.1:c.746T>C ENSP00000510309.1:p.Leu249Pro
ENST00000307102.10:c.890T>C MANE Select ENSP00000302486.5:p.Leu297Pro
ENST00000307102.9:c.890T>C ENSP00000302486.4:p.Leu297Pro
ENST00000566326.1:c.362T>C ENSP00000456438.1:p.Leu121Pro
NM_002755.3:c.890T>C , LRG_725t1:c.890T>C NP_002746.1:p.Leu297Pro
XM_011521783.1:c.824T>C XP_011520085.1:p.Leu275Pro
XM_011521783.3:c.824T>C XP_011520085.1:p.Leu275Pro
XM_017022411.2:c.812T>C XP_016877900.1:p.Leu271Pro
XM_017022412.1:c.746T>C XP_016877901.1:p.Leu249Pro
XM_017022413.1:c.362T>C XP_016877902.1:p.Leu121Pro
NM_002755.4:c.890T>C MANE Select NP_002746.1:p.Leu297Pro