Canonical Allele Identifier: CA7624016
Gene: MAP2K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1057213
ClinVar RCV Id: RCV001366153
dbSNP Id: rs753236280
ExAC: 15:66777406 G / A
gnomAD v2: 15-66777406-G-A
gnomAD v4: 15-66485068-G-A
COSMIC: COSM1214374
MyVariant Identifiers: chr15:g.66777406G>A (hg19) chr15:g.66485068G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485068G>A , CM000677.2:g.66485068G>A GRCh38
NC_000015.9:g.66777406G>A , CM000677.1:g.66777406G>A GRCh37
NC_000015.8:g.64564460G>A NCBI36
NG_008305.1:g.103196G>A , LRG_725:g.103196G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000684779.1:c.628-2160G>A ENSP00000508681.1:n.628-2160G>A
ENST00000685172.1:c.772G>A ENSP00000509604.1:p.Val258Ile
ENST00000685763.1:c.625G>A ENSP00000509016.1:p.Val209Ile
ENST00000686347.1:c.569-2160G>A ENSP00000509027.1:n.569-2160G>A
ENST00000687191.1:n.1130G>A
ENST00000687481.1:n.187G>A
ENST00000689951.1:c.823G>A ENSP00000509308.1:p.Val275Ile
ENST00000691077.1:c.*9G>A ENSP00000509843.1:n.*9G>A
ENST00000691576.1:c.643G>A ENSP00000510066.1:p.Val215Ile
ENST00000691937.1:c.772G>A ENSP00000508768.1:p.Val258Ile
ENST00000692487.1:c.*9G>A ENSP00000509534.1:n.*9G>A
ENST00000692683.1:c.706G>A ENSP00000508437.1:p.Val236Ile
ENST00000693150.1:c.628G>A ENSP00000510309.1:p.Val210Ile
ENST00000307102.10:c.772G>A MANE Select ENSP00000302486.5:p.Val258Ile
ENST00000307102.9:c.772G>A ENSP00000302486.4:p.Val258Ile
ENST00000566326.1:c.244G>A ENSP00000456438.1:p.Val82Ile
NM_002755.3:c.772G>A , LRG_725t1:c.772G>A NP_002746.1:p.Val258Ile
XM_011521783.1:c.706G>A XP_011520085.1:p.Val236Ile
XM_011521783.3:c.706G>A XP_011520085.1:p.Val236Ile
XM_017022411.2:c.694G>A XP_016877900.1:p.Val232Ile
XM_017022412.1:c.628G>A XP_016877901.1:p.Val210Ile
XM_017022413.1:c.244G>A XP_016877902.1:p.Val82Ile
NM_002755.4:c.772G>A MANE Select NP_002746.1:p.Val258Ile
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