Canonical Allele Identifier: CA7624014
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs760016123
ExAC: 15:66777397 G / C
gnomAD v2: 15-66777397-G-C
MyVariant Identifiers: chr15:g.66777397G>C (hg19) chr15:g.66485059G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485059G>C , CM000677.2:g.66485059G>C GRCh38
NC_000015.9:g.66777397G>C , CM000677.1:g.66777397G>C GRCh37
NC_000015.8:g.64564451G>C NCBI36
NG_008305.1:g.103187G>C , LRG_725:g.103187G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000684779.1:c.628-2169G>C ENSP00000508681.1:n.628-2169G>C
ENST00000685172.1:c.763G>C ENSP00000509604.1:p.Glu255Gln
ENST00000685763.1:c.616G>C ENSP00000509016.1:p.Glu206Gln
ENST00000686347.1:c.569-2169G>C ENSP00000509027.1:n.569-2169G>C
ENST00000687191.1:n.1121G>C
ENST00000687481.1:n.178G>C
ENST00000689951.1:c.814G>C ENSP00000509308.1:p.Glu272Gln
ENST00000691077.1:c.759G>C ENSP00000509843.1:p.Ter253Tyr
ENST00000691576.1:c.634G>C ENSP00000510066.1:p.Glu212Gln
ENST00000691937.1:c.763G>C ENSP00000508768.1:p.Glu255Gln
ENST00000692487.1:c.759G>C ENSP00000509534.1:p.Ter253Tyr
ENST00000692683.1:c.697G>C ENSP00000508437.1:p.Glu233Gln
ENST00000693150.1:c.619G>C ENSP00000510309.1:p.Glu207Gln
ENST00000307102.10:c.763G>C MANE Select ENSP00000302486.5:p.Glu255Gln
ENST00000307102.9:c.763G>C ENSP00000302486.4:p.Glu255Gln
ENST00000566326.1:c.235G>C ENSP00000456438.1:p.Glu79Gln
NM_002755.3:c.763G>C , LRG_725t1:c.763G>C NP_002746.1:p.Glu255Gln
XM_011521783.1:c.697G>C XP_011520085.1:p.Glu233Gln
XM_011521783.3:c.697G>C XP_011520085.1:p.Glu233Gln
XM_017022411.2:c.685G>C XP_016877900.1:p.Glu229Gln
XM_017022412.1:c.619G>C XP_016877901.1:p.Glu207Gln
XM_017022413.1:c.235G>C XP_016877902.1:p.Glu79Gln
NM_002755.4:c.763G>C MANE Select NP_002746.1:p.Glu255Gln
Search 100 bp 5'
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