Canonical Allele Identifier: CA2184097320
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs1595884654
gnomAD v4: 15-66481646-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66481646T>G , CM000677.2:g.66481646T>G GRCh38
NC_000015.9:g.66773984T>G , CM000677.1:g.66773984T>G GRCh37
NC_000015.8:g.64561038T>G NCBI36
NG_008305.1:g.99774T>G , LRG_725:g.99774T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.503-109T>G ENSP00000508681.1:n.503-109T>G
ENST00000685172.1:c.569-109T>G ENSP00000509604.1:n.569-109T>G
ENST00000685763.1:c.422-109T>G ENSP00000509016.1:n.422-109T>G
ENST00000686347.1:c.569-5582T>G ENSP00000509027.1:n.569-5582T>G
ENST00000687191.1:n.927-109T>G
ENST00000689951.1:c.620-109T>G ENSP00000509308.1:n.620-109T>G
ENST00000691077.1:c.569-109T>G ENSP00000509843.1:n.569-109T>G
ENST00000691576.1:c.569-3348T>G ENSP00000510066.1:n.569-3348T>G
ENST00000691937.1:c.569-109T>G ENSP00000508768.1:n.569-109T>G
ENST00000692487.1:c.569-109T>G ENSP00000509534.1:n.569-109T>G
ENST00000692683.1:c.503-109T>G ENSP00000508437.1:n.503-109T>G
ENST00000693150.1:c.425-109T>G ENSP00000510309.1:n.425-109T>G
ENST00000307102.10:c.569-109T>G MANE Select ENSP00000302486.5:n.569-109T>G
ENST00000307102.9:c.569-109T>G ENSP00000302486.4:n.569-109T>G
ENST00000566326.1:c.41-109T>G ENSP00000456438.1:n.41-109T>G
NM_002755.3:c.569-109T>G , LRG_725t1:c.569-109T>G NP_002746.1:n.569-109T>G
XM_011521783.1:c.503-109T>G XP_011520085.1:n.503-109T>G
XM_011521783.3:c.503-109T>G XP_011520085.1:n.503-109T>G
XM_017022411.2:c.491-109T>G XP_016877900.1:n.491-109T>G
XM_017022412.1:c.425-109T>G XP_016877901.1:n.425-109T>G
XM_017022413.1:c.41-109T>G XP_016877902.1:n.41-109T>G
NM_002755.4:c.569-109T>G MANE Select NP_002746.1:n.569-109T>G
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