Canonical Allele Identifier: CA392929508
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140579796
gnomAD v4: 15-66435200-T-G
MyVariant Identifiers: chr15:g.66727538T>G (hg19) chr15:g.66435200T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66435200T>G , CM000677.2:g.66435200T>G GRCh38
NC_000015.9:g.66727538T>G , CM000677.1:g.66727538T>G GRCh37
NC_000015.8:g.64514592T>G NCBI36
NG_008305.1:g.53328T>G , LRG_725:g.53328T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.188T>G ENSP00000508681.1:p.Val63Gly
ENST00000685172.1:c.254T>G ENSP00000509604.1:p.Val85Gly
ENST00000685763.1:c.254T>G ENSP00000509016.1:p.Val85Gly
ENST00000686347.1:c.254T>G ENSP00000509027.1:p.Val85Gly
ENST00000687191.1:n.690T>G
ENST00000689951.1:c.254T>G ENSP00000509308.1:p.Val85Gly
ENST00000691077.1:c.254T>G ENSP00000509843.1:p.Val85Gly
ENST00000691576.1:c.254T>G ENSP00000510066.1:p.Val85Gly
ENST00000691937.1:c.254T>G ENSP00000508768.1:p.Val85Gly
ENST00000692487.1:c.254T>G ENSP00000509534.1:p.Val85Gly
ENST00000692683.1:c.188T>G ENSP00000508437.1:p.Val63Gly
ENST00000693150.1:c.188T>G ENSP00000510309.1:p.Val63Gly
ENST00000307102.10:c.254T>G MANE Select ENSP00000302486.5:p.Val85Gly
ENST00000307102.9:c.254T>G ENSP00000302486.4:p.Val85Gly
ENST00000425818.2:n.765T>G
NM_002755.3:c.254T>G , LRG_725t1:c.254T>G NP_002746.1:p.Val85Gly
XM_011521783.1:c.188T>G XP_011520085.1:p.Val63Gly
XM_011521783.3:c.188T>G XP_011520085.1:p.Val63Gly
XM_017022411.2:c.254T>G XP_016877900.1:p.Val85Gly
XM_017022412.1:c.188T>G XP_016877901.1:p.Val63Gly
NM_002755.4:c.254T>G MANE Select NP_002746.1:p.Val85Gly
Search 100 bp 5'
Search 100 bp 3'