Canonical Allele Identifier: CA392937034
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140674242
gnomAD v3: 15-66485048-T-C
gnomAD v4: 15-66485048-T-C
MyVariant Identifiers: chr15:g.66777386T>C (hg19) chr15:g.66485048T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485048T>C , CM000677.2:g.66485048T>C GRCh38
NC_000015.9:g.66777386T>C , CM000677.1:g.66777386T>C GRCh37
NC_000015.8:g.64564440T>C NCBI36
NG_008305.1:g.103176T>C , LRG_725:g.103176T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000684779.1:c.628-2180T>C ENSP00000508681.1:n.628-2180T>C
ENST00000685172.1:c.752T>C ENSP00000509604.1:p.Leu251Pro
ENST00000685763.1:c.605T>C ENSP00000509016.1:p.Leu202Pro
ENST00000686347.1:c.569-2180T>C ENSP00000509027.1:n.569-2180T>C
ENST00000687191.1:n.1110T>C
ENST00000687481.1:n.167T>C
ENST00000689951.1:c.803T>C ENSP00000509308.1:p.Leu268Pro
ENST00000691077.1:c.748T>C ENSP00000509843.1:p.Cys250Arg
ENST00000691576.1:c.623T>C ENSP00000510066.1:p.Leu208Pro
ENST00000691937.1:c.752T>C ENSP00000508768.1:p.Leu251Pro
ENST00000692487.1:c.748T>C ENSP00000509534.1:p.Cys250Arg
ENST00000692683.1:c.686T>C ENSP00000508437.1:p.Leu229Pro
ENST00000693150.1:c.608T>C ENSP00000510309.1:p.Leu203Pro
ENST00000307102.10:c.752T>C MANE Select ENSP00000302486.5:p.Leu251Pro
ENST00000307102.9:c.752T>C ENSP00000302486.4:p.Leu251Pro
ENST00000566326.1:c.224T>C ENSP00000456438.1:p.Leu75Pro
NM_002755.3:c.752T>C , LRG_725t1:c.752T>C NP_002746.1:p.Leu251Pro
XM_011521783.1:c.686T>C XP_011520085.1:p.Leu229Pro
XM_011521783.3:c.686T>C XP_011520085.1:p.Leu229Pro
XM_017022411.2:c.674T>C XP_016877900.1:p.Leu225Pro
XM_017022412.1:c.608T>C XP_016877901.1:p.Leu203Pro
XM_017022413.1:c.224T>C XP_016877902.1:p.Leu75Pro
NM_002755.4:c.752T>C MANE Select NP_002746.1:p.Leu251Pro
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