Canonical Allele Identifier: CA392937345
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140675176
gnomAD v4: 15-66485141-A-G
MyVariant Identifiers: chr15:g.66777479A>G (hg19) chr15:g.66485141A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485141A>G , CM000677.2:g.66485141A>G GRCh38
NC_000015.9:g.66777479A>G , CM000677.1:g.66777479A>G GRCh37
NC_000015.8:g.64564533A>G NCBI36
NG_008305.1:g.103269A>G , LRG_725:g.103269A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2087A>G ENSP00000508681.1:n.628-2087A>G
ENST00000685172.1:c.845A>G ENSP00000509604.1:p.Asp282Gly
ENST00000685763.1:c.698A>G ENSP00000509016.1:p.Asp233Gly
ENST00000686347.1:c.569-2087A>G ENSP00000509027.1:n.569-2087A>G
ENST00000687191.1:n.1203A>G
ENST00000687481.1:n.260A>G
ENST00000689951.1:c.896A>G ENSP00000509308.1:p.Asp299Gly
ENST00000691077.1:c.*82A>G ENSP00000509843.1:n.*82A>G
ENST00000691576.1:c.716A>G ENSP00000510066.1:p.Asp239Gly
ENST00000691937.1:c.845A>G ENSP00000508768.1:p.Asp282Gly
ENST00000692487.1:c.*82A>G ENSP00000509534.1:n.*82A>G
ENST00000692683.1:c.779A>G ENSP00000508437.1:p.Asp260Gly
ENST00000693150.1:c.701A>G ENSP00000510309.1:p.Asp234Gly
ENST00000307102.10:c.845A>G MANE Select ENSP00000302486.5:p.Asp282Gly
ENST00000307102.9:c.845A>G ENSP00000302486.4:p.Asp282Gly
ENST00000566326.1:c.317A>G ENSP00000456438.1:p.Asp106Gly
NM_002755.3:c.845A>G , LRG_725t1:c.845A>G NP_002746.1:p.Asp282Gly
XM_011521783.1:c.779A>G XP_011520085.1:p.Asp260Gly
XM_011521783.3:c.779A>G XP_011520085.1:p.Asp260Gly
XM_017022411.2:c.767A>G XP_016877900.1:p.Asp256Gly
XM_017022412.1:c.701A>G XP_016877901.1:p.Asp234Gly
XM_017022413.1:c.317A>G XP_016877902.1:p.Asp106Gly
NM_002755.4:c.845A>G MANE Select NP_002746.1:p.Asp282Gly
Search 100 bp 5'
Search 100 bp 3'