Canonical Allele Identifier: CA2629083602
Gene: MAP2K1 HGNC NCBI

Linked Data

gnomAD v4: 15-66485214-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485214A>C , CM000677.2:g.66485214A>C GRCh38
NC_000015.9:g.66777552A>C , CM000677.1:g.66777552A>C GRCh37
NC_000015.8:g.64564606A>C NCBI36
NG_008305.1:g.103342A>C , LRG_725:g.103342A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2014A>C ENSP00000508681.1:n.628-2014A>C
ENST00000685172.1:c.895+23A>C ENSP00000509604.1:n.895+23A>C
ENST00000685763.1:c.748+23A>C ENSP00000509016.1:n.748+23A>C
ENST00000686347.1:c.569-2014A>C ENSP00000509027.1:n.569-2014A>C
ENST00000687191.1:n.1253+23A>C
ENST00000687481.1:n.310+23A>C
ENST00000689951.1:c.946+23A>C ENSP00000509308.1:n.946+23A>C
ENST00000691077.1:c.*132+23A>C ENSP00000509843.1:n.*132+23A>C
ENST00000691576.1:c.766+23A>C ENSP00000510066.1:n.766+23A>C
ENST00000691937.1:c.895+23A>C ENSP00000508768.1:n.895+23A>C
ENST00000692487.1:c.*132+23A>C ENSP00000509534.1:n.*132+23A>C
ENST00000692683.1:c.829+23A>C ENSP00000508437.1:n.829+23A>C
ENST00000693150.1:c.751+23A>C ENSP00000510309.1:n.751+23A>C
ENST00000307102.10:c.895+23A>C MANE Select ENSP00000302486.5:n.895+23A>C
ENST00000307102.9:c.895+23A>C ENSP00000302486.4:n.895+23A>C
ENST00000566326.1:c.367+23A>C ENSP00000456438.1:n.367+23A>C
NM_002755.3:c.895+23A>C , LRG_725t1:c.895+23A>C NP_002746.1:n.895+23A>C
XM_011521783.1:c.829+23A>C XP_011520085.1:n.829+23A>C
XM_011521783.3:c.829+23A>C XP_011520085.1:n.829+23A>C
XM_017022411.2:c.817+23A>C XP_016877900.1:n.817+23A>C
XM_017022412.1:c.751+23A>C XP_016877901.1:n.751+23A>C
XM_017022413.1:c.367+23A>C XP_016877902.1:n.367+23A>C
NM_002755.4:c.895+23A>C MANE Select NP_002746.1:n.895+23A>C
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