Canonical Allele Identifier: CA10603467
Gene: MAP2K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 280446
ClinVar RCV Id: RCV000388257 RCV000763976 RCV001027695 RCV001250384
dbSNP Id: rs727504819
MyVariant Identifiers: chr15:g.66729115G>T (hg19) chr15:g.66436777G>T (hg38)
ERepo: CA10603467/MONDO:0021060/004
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66436777G>T , CM000677.2:g.66436777G>T GRCh38
NC_000015.9:g.66729115G>T , CM000677.1:g.66729115G>T GRCh37
NC_000015.8:g.64516169G>T NCBI36
NG_008305.1:g.54905G>T , LRG_725:g.54905G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.257G>T ENSP00000508681.1:p.Arg86Leu
ENST00000685172.1:c.323G>T ENSP00000509604.1:p.Arg108Leu
ENST00000685763.1:c.291+1540G>T ENSP00000509016.1:n.291+1540G>T
ENST00000686347.1:c.323G>T ENSP00000509027.1:p.Arg108Leu
ENST00000687191.1:n.759G>T
ENST00000689951.1:c.323G>T ENSP00000509308.1:p.Arg108Leu
ENST00000691077.1:c.323G>T ENSP00000509843.1:p.Arg108Leu
ENST00000691576.1:c.323G>T ENSP00000510066.1:p.Arg108Leu
ENST00000691937.1:c.323G>T ENSP00000508768.1:p.Arg108Leu
ENST00000692487.1:c.323G>T ENSP00000509534.1:p.Arg108Leu
ENST00000692683.1:c.257G>T ENSP00000508437.1:p.Arg86Leu
ENST00000693150.1:c.257G>T ENSP00000510309.1:p.Arg86Leu
ENST00000307102.10:c.323G>T MANE Select ENSP00000302486.5:p.Arg108Leu
ENST00000307102.9:c.323G>T ENSP00000302486.4:p.Arg108Leu
ENST00000425818.2:n.834G>T
NM_002755.3:c.323G>T , LRG_725t1:c.323G>T NP_002746.1:p.Arg108Leu
XM_011521783.1:c.257G>T XP_011520085.1:p.Arg86Leu
XM_011521783.3:c.257G>T XP_011520085.1:p.Arg86Leu
XM_017022411.2:c.323G>T XP_016877900.1:p.Arg108Leu
XM_017022412.1:c.257G>T XP_016877901.1:p.Arg86Leu
NM_002755.4:c.323G>T MANE Select NP_002746.1:p.Arg108Leu
Search 100 bp 5'
Search 100 bp 3'