Canonical Allele Identifier: CA970939411
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs1892920121
gnomAD v3: 15-66481766-T-TAG
gnomAD v4: 15-66481766-T-TAG
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66481766_66481767insAG , CM000677.2:g.66481766_66481767insAG GRCh38
NC_000015.9:g.66774104_66774105insAG , CM000677.1:g.66774104_66774105insAG GRCh37
NC_000015.8:g.64561158_64561159insAG NCBI36
NG_008305.1:g.99894_99895insAG , LRG_725:g.99894_99895insAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.514_515insAG ENSP00000508681.1:p.Ser172Ter
ENST00000685172.1:c.580_581insAG ENSP00000509604.1:p.Ser194Ter
ENST00000685763.1:c.433_434insAG ENSP00000509016.1:p.Ser145Ter
ENST00000686347.1:c.569-5462_569-5461insAG ENSP00000509027.1:n.569-5462_569-5461insAG
ENST00000687191.1:n.938_939insAG
ENST00000689951.1:c.631_632insAG ENSP00000509308.1:p.Ser211Ter
ENST00000691077.1:c.580_581insAG ENSP00000509843.1:p.Ser194Ter
ENST00000691576.1:c.569-3228_569-3227insAG ENSP00000510066.1:n.569-3228_569-3227insAG
ENST00000691937.1:c.580_581insAG ENSP00000508768.1:p.Ser194Ter
ENST00000692487.1:c.580_581insAG ENSP00000509534.1:p.Ser194Ter
ENST00000692683.1:c.514_515insAG ENSP00000508437.1:p.Ser172Ter
ENST00000693150.1:c.436_437insAG ENSP00000510309.1:p.Ser146Ter
ENST00000307102.10:c.580_581insAG MANE Select ENSP00000302486.5:p.Ser194Ter
ENST00000307102.9:c.580_581insAG ENSP00000302486.4:p.Ser194Ter
ENST00000566326.1:c.52_53insAG ENSP00000456438.1:p.Ser18Ter
NM_002755.3:c.580_581insAG , LRG_725t1:c.580_581insAG NP_002746.1:p.Ser194Ter
XM_011521783.1:c.514_515insAG XP_011520085.1:p.Ser172Ter
XM_011521783.3:c.514_515insAG XP_011520085.1:p.Ser172Ter
XM_017022411.2:c.502_503insAG XP_016877900.1:p.Ser168Ter
XM_017022412.1:c.436_437insAG XP_016877901.1:p.Ser146Ter
XM_017022413.1:c.52_53insAG XP_016877902.1:p.Ser18Ter
NM_002755.4:c.580_581insAG MANE Select NP_002746.1:p.Ser194Ter
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