Canonical Allele Identifier: CA392937407
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs918690546
gnomAD v4: 15-66485173-C-A
MyVariant Identifiers: chr15:g.66777511C>A (hg19) chr15:g.66485173C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485173C>A , CM000677.2:g.66485173C>A GRCh38
NC_000015.9:g.66777511C>A , CM000677.1:g.66777511C>A GRCh37
NC_000015.8:g.64564565C>A NCBI36
NG_008305.1:g.103301C>A , LRG_725:g.103301C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2055C>A ENSP00000508681.1:n.628-2055C>A
ENST00000685172.1:c.877C>A ENSP00000509604.1:p.Pro293Thr
ENST00000685763.1:c.730C>A ENSP00000509016.1:p.Pro244Thr
ENST00000686347.1:c.569-2055C>A ENSP00000509027.1:n.569-2055C>A
ENST00000687191.1:n.1235C>A
ENST00000687481.1:n.292C>A
ENST00000689951.1:c.928C>A ENSP00000509308.1:p.Pro310Thr
ENST00000691077.1:c.*114C>A ENSP00000509843.1:n.*114C>A
ENST00000691576.1:c.748C>A ENSP00000510066.1:p.Pro250Thr
ENST00000691937.1:c.877C>A ENSP00000508768.1:p.Pro293Thr
ENST00000692487.1:c.*114C>A ENSP00000509534.1:n.*114C>A
ENST00000692683.1:c.811C>A ENSP00000508437.1:p.Pro271Thr
ENST00000693150.1:c.733C>A ENSP00000510309.1:p.Pro245Thr
ENST00000307102.10:c.877C>A MANE Select ENSP00000302486.5:p.Pro293Thr
ENST00000307102.9:c.877C>A ENSP00000302486.4:p.Pro293Thr
ENST00000566326.1:c.349C>A ENSP00000456438.1:p.Pro117Thr
NM_002755.3:c.877C>A , LRG_725t1:c.877C>A NP_002746.1:p.Pro293Thr
XM_011521783.1:c.811C>A XP_011520085.1:p.Pro271Thr
XM_011521783.3:c.811C>A XP_011520085.1:p.Pro271Thr
XM_017022411.2:c.799C>A XP_016877900.1:p.Pro267Thr
XM_017022412.1:c.733C>A XP_016877901.1:p.Pro245Thr
XM_017022413.1:c.349C>A XP_016877902.1:p.Pro117Thr
NM_002755.4:c.877C>A MANE Select NP_002746.1:p.Pro293Thr
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