Canonical Allele Identifier: CA1139664038
Gene: MAP2K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 917818
ClinVar RCV Id: RCV001175081
dbSNP Id: rs1893005622
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485090_66485156dup , CM000677.2:g.66485090_66485156dup GRCh38
NC_000015.9:g.66777428_66777494dup , CM000677.1:g.66777428_66777494dup GRCh37
NC_000015.8:g.64564482_64564548dup NCBI36
NG_008305.1:g.103218_103284dup , LRG_725:g.103218_103284dup

Transcript Alleles

HGVS Amino-acid change
ENST00000684779.1:c.628-2138_628-2072dup ENSP00000508681.1:n.628-2138_628-2072dup
ENST00000685172.1:c.794_860dup ENSP00000509604.1:p.Pro288SerfsTer20
ENST00000685763.1:c.647_713dup ENSP00000509016.1:p.Pro239SerfsTer20
ENST00000686347.1:c.569-2138_569-2072dup ENSP00000509027.1:n.569-2138_569-2072dup
ENST00000687191.1:n.1152_1218dup
ENST00000687481.1:n.209_275dup
ENST00000689951.1:c.845_911dup ENSP00000509308.1:p.Pro305SerfsTer20
ENST00000691077.1:c.*31_*97dup ENSP00000509843.1:n.*31_*97dup
ENST00000691576.1:c.665_731dup ENSP00000510066.1:p.Pro245SerfsTer20
ENST00000691937.1:c.794_860dup ENSP00000508768.1:p.Pro288SerfsTer20
ENST00000692487.1:c.*31_*97dup ENSP00000509534.1:n.*31_*97dup
ENST00000692683.1:c.728_794dup ENSP00000508437.1:p.Pro266SerfsTer20
ENST00000693150.1:c.650_716dup ENSP00000510309.1:p.Pro240SerfsTer20
ENST00000307102.10:c.794_860dup MANE Select ENSP00000302486.5:p.Pro288SerfsTer20
ENST00000307102.9:c.794_860dup ENSP00000302486.4:p.Pro288SerfsTer20
ENST00000566326.1:c.266_332dup ENSP00000456438.1:p.Pro112SerfsTer20
NM_002755.3:c.794_860dup , LRG_725t1:c.794_860dup NP_002746.1:p.Pro288SerfsTer20
XM_011521783.1:c.728_794dup XP_011520085.1:p.Pro266SerfsTer20
XM_011521783.3:c.728_794dup XP_011520085.1:p.Pro266SerfsTer20
XM_017022411.2:c.716_782dup XP_016877900.1:p.Pro262SerfsTer20
XM_017022412.1:c.650_716dup XP_016877901.1:p.Pro240SerfsTer20
XM_017022413.1:c.266_332dup XP_016877902.1:p.Pro112SerfsTer20
NM_002755.4:c.794_860dup MANE Select NP_002746.1:p.Pro288SerfsTer20
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