Canonical Allele Identifier: CA392937024
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140674208
gnomAD v4: 15-66485045-G-T
MyVariant Identifiers: chr15:g.66777383G>T (hg19) chr15:g.66485045G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485045G>T , CM000677.2:g.66485045G>T GRCh38
NC_000015.9:g.66777383G>T , CM000677.1:g.66777383G>T GRCh37
NC_000015.8:g.64564437G>T NCBI36
NG_008305.1:g.103173G>T , LRG_725:g.103173G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000684779.1:c.628-2183G>T ENSP00000508681.1:n.628-2183G>T
ENST00000685172.1:c.749G>T ENSP00000509604.1:p.Gly250Val
ENST00000685763.1:c.602G>T ENSP00000509016.1:p.Gly201Val
ENST00000686347.1:c.569-2183G>T ENSP00000509027.1:n.569-2183G>T
ENST00000687191.1:n.1107G>T
ENST00000687481.1:n.164G>T
ENST00000689951.1:c.800G>T ENSP00000509308.1:p.Gly267Val
ENST00000691077.1:c.745G>T ENSP00000509843.1:p.Asp249Tyr
ENST00000691576.1:c.620G>T ENSP00000510066.1:p.Gly207Val
ENST00000691937.1:c.749G>T ENSP00000508768.1:p.Gly250Val
ENST00000692487.1:c.745G>T ENSP00000509534.1:p.Asp249Tyr
ENST00000692683.1:c.683G>T ENSP00000508437.1:p.Gly228Val
ENST00000693150.1:c.605G>T ENSP00000510309.1:p.Gly202Val
ENST00000307102.10:c.749G>T MANE Select ENSP00000302486.5:p.Gly250Val
ENST00000307102.9:c.749G>T ENSP00000302486.4:p.Gly250Val
ENST00000566326.1:c.221G>T ENSP00000456438.1:p.Gly74Val
NM_002755.3:c.749G>T , LRG_725t1:c.749G>T NP_002746.1:p.Gly250Val
XM_011521783.1:c.683G>T XP_011520085.1:p.Gly228Val
XM_011521783.3:c.683G>T XP_011520085.1:p.Gly228Val
XM_017022411.2:c.671G>T XP_016877900.1:p.Gly224Val
XM_017022412.1:c.605G>T XP_016877901.1:p.Gly202Val
XM_017022413.1:c.221G>T XP_016877902.1:p.Gly74Val
NM_002755.4:c.749G>T MANE Select NP_002746.1:p.Gly250Val
Search 100 bp 5'
Search 100 bp 3'