Canonical Allele Identifier: CA392937391
Gene: MAP2K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2084673
ClinVar RCV Id: RCV003011256
dbSNP Id: rs1893008091
gnomAD v3: 15-66485164-C-A
gnomAD v4: 15-66485164-C-A
MyVariant Identifiers: chr15:g.66777502C>A (hg19) chr15:g.66485164C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485164C>A , CM000677.2:g.66485164C>A GRCh38
NC_000015.9:g.66777502C>A , CM000677.1:g.66777502C>A GRCh37
NC_000015.8:g.64564556C>A NCBI36
NG_008305.1:g.103292C>A , LRG_725:g.103292C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000684779.1:c.628-2064C>A ENSP00000508681.1:n.628-2064C>A
ENST00000685172.1:c.868C>A ENSP00000509604.1:p.Pro290Thr
ENST00000685763.1:c.721C>A ENSP00000509016.1:p.Pro241Thr
ENST00000686347.1:c.569-2064C>A ENSP00000509027.1:n.569-2064C>A
ENST00000687191.1:n.1226C>A
ENST00000687481.1:n.283C>A
ENST00000689951.1:c.919C>A ENSP00000509308.1:p.Pro307Thr
ENST00000691077.1:c.*105C>A ENSP00000509843.1:n.*105C>A
ENST00000691576.1:c.739C>A ENSP00000510066.1:p.Pro247Thr
ENST00000691937.1:c.868C>A ENSP00000508768.1:p.Pro290Thr
ENST00000692487.1:c.*105C>A ENSP00000509534.1:n.*105C>A
ENST00000692683.1:c.802C>A ENSP00000508437.1:p.Pro268Thr
ENST00000693150.1:c.724C>A ENSP00000510309.1:p.Pro242Thr
ENST00000307102.10:c.868C>A MANE Select ENSP00000302486.5:p.Pro290Thr
ENST00000307102.9:c.868C>A ENSP00000302486.4:p.Pro290Thr
ENST00000566326.1:c.340C>A ENSP00000456438.1:p.Pro114Thr
NM_002755.3:c.868C>A , LRG_725t1:c.868C>A NP_002746.1:p.Pro290Thr
XM_011521783.1:c.802C>A XP_011520085.1:p.Pro268Thr
XM_011521783.3:c.802C>A XP_011520085.1:p.Pro268Thr
XM_017022411.2:c.790C>A XP_016877900.1:p.Pro264Thr
XM_017022412.1:c.724C>A XP_016877901.1:p.Pro242Thr
XM_017022413.1:c.340C>A XP_016877902.1:p.Pro114Thr
NM_002755.4:c.868C>A MANE Select NP_002746.1:p.Pro290Thr
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