Canonical Allele Identifier: CA970941110
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs1893004556
gnomAD v3: 15-66485052-T-TC
gnomAD v4: 15-66485052-T-TC
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485053dup , CM000677.2:g.66485053dup GRCh38
NC_000015.9:g.66777391dup , CM000677.1:g.66777391dup GRCh37
NC_000015.8:g.64564445dup NCBI36
NG_008305.1:g.103181dup , LRG_725:g.103181dup

Transcript Alleles

HGVS Amino-acid change
ENST00000684779.1:c.628-2175dup ENSP00000508681.1:n.628-2175dup
ENST00000685172.1:c.757dup ENSP00000509604.1:p.Leu253ProfsTer?
ENST00000685763.1:c.610dup ENSP00000509016.1:p.Leu204ProfsTer?
ENST00000686347.1:c.569-2175dup ENSP00000509027.1:n.569-2175dup
ENST00000687191.1:n.1115dup
ENST00000687481.1:n.172dup
ENST00000689951.1:c.808dup ENSP00000509308.1:p.Leu270ProfsTer?
ENST00000691077.1:c.753dup ENSP00000509843.1:p.Trp252LeufsTer?
ENST00000691576.1:c.628dup ENSP00000510066.1:p.Leu210ProfsTer?
ENST00000691937.1:c.757dup ENSP00000508768.1:p.Leu253ProfsTer?
ENST00000692487.1:c.753dup ENSP00000509534.1:p.Trp252LeufsTer?
ENST00000692683.1:c.691dup ENSP00000508437.1:p.Leu231ProfsTer?
ENST00000693150.1:c.613dup ENSP00000510309.1:p.Leu205ProfsTer?
ENST00000307102.10:c.757dup MANE Select ENSP00000302486.5:p.Leu253ProfsTer?
ENST00000307102.9:c.757dup ENSP00000302486.4:p.Leu253ProfsTer?
ENST00000566326.1:c.229dup ENSP00000456438.1:p.Leu77ProfsTer?
NM_002755.3:c.757dup , LRG_725t1:c.757dup NP_002746.1:p.Leu253ProfsTer?
XM_011521783.1:c.691dup XP_011520085.1:p.Leu231ProfsTer?
XM_011521783.3:c.691dup XP_011520085.1:p.Leu231ProfsTer?
XM_017022411.2:c.679dup XP_016877900.1:p.Leu227ProfsTer?
XM_017022412.1:c.613dup XP_016877901.1:p.Leu205ProfsTer?
XM_017022413.1:c.229dup XP_016877902.1:p.Leu77ProfsTer?
NM_002755.4:c.757dup MANE Select NP_002746.1:p.Leu253ProfsTer?
Search 100 bp 5'
Search 100 bp 3'