Canonical Allele Identifier: CA2629083416
Gene: MAP2K1 HGNC NCBI

Linked Data

gnomAD v4: 15-66481910-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66481910T>G , CM000677.2:g.66481910T>G GRCh38
NC_000015.9:g.66774248T>G , CM000677.1:g.66774248T>G GRCh37
NC_000015.8:g.64561302T>G NCBI36
NG_008305.1:g.100038T>G , LRG_725:g.100038T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.627+31T>G ENSP00000508681.1:n.627+31T>G
ENST00000685172.1:c.693+31T>G ENSP00000509604.1:n.693+31T>G
ENST00000685763.1:c.546+31T>G ENSP00000509016.1:n.546+31T>G
ENST00000686347.1:c.569-5318T>G ENSP00000509027.1:n.569-5318T>G
ENST00000687191.1:n.1051+31T>G
ENST00000689951.1:c.744+31T>G ENSP00000509308.1:n.744+31T>G
ENST00000691077.1:c.693+31T>G ENSP00000509843.1:n.693+31T>G
ENST00000691576.1:c.569-3084T>G ENSP00000510066.1:n.569-3084T>G
ENST00000691937.1:c.693+31T>G ENSP00000508768.1:n.693+31T>G
ENST00000692487.1:c.693+31T>G ENSP00000509534.1:n.693+31T>G
ENST00000692683.1:c.627+31T>G ENSP00000508437.1:n.627+31T>G
ENST00000693150.1:c.549+31T>G ENSP00000510309.1:n.549+31T>G
ENST00000307102.10:c.693+31T>G MANE Select ENSP00000302486.5:n.693+31T>G
ENST00000307102.9:c.693+31T>G ENSP00000302486.4:n.693+31T>G
ENST00000566326.1:c.165+31T>G ENSP00000456438.1:n.165+31T>G
NM_002755.3:c.693+31T>G , LRG_725t1:c.693+31T>G NP_002746.1:n.693+31T>G
XM_011521783.1:c.627+31T>G XP_011520085.1:n.627+31T>G
XM_011521783.3:c.627+31T>G XP_011520085.1:n.627+31T>G
XM_017022411.2:c.615+31T>G XP_016877900.1:n.615+31T>G
XM_017022412.1:c.549+31T>G XP_016877901.1:n.549+31T>G
XM_017022413.1:c.165+31T>G XP_016877902.1:n.165+31T>G
NM_002755.4:c.693+31T>G MANE Select NP_002746.1:n.693+31T>G
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