Canonical Allele Identifier: CA392937094
Gene: MAP2K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2572546
ClinVar RCV Id: RCV003314431
dbSNP Id: rs1326401609
gnomAD v2: 15-66777401-T-C
gnomAD v4: 15-66485063-T-C
COSMIC: COSM6077492
MyVariant Identifiers: chr15:g.66777401T>C (hg19) chr15:g.66485063T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485063T>C , CM000677.2:g.66485063T>C GRCh38
NC_000015.9:g.66777401T>C , CM000677.1:g.66777401T>C GRCh37
NC_000015.8:g.64564455T>C NCBI36
NG_008305.1:g.103191T>C , LRG_725:g.103191T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000684779.1:c.628-2165T>C ENSP00000508681.1:n.628-2165T>C
ENST00000685172.1:c.767T>C ENSP00000509604.1:p.Met256Thr
ENST00000685763.1:c.620T>C ENSP00000509016.1:p.Met207Thr
ENST00000686347.1:c.569-2165T>C ENSP00000509027.1:n.569-2165T>C
ENST00000687191.1:n.1125T>C
ENST00000687481.1:n.182T>C
ENST00000689951.1:c.818T>C ENSP00000509308.1:p.Met273Thr
ENST00000691077.1:c.*4T>C ENSP00000509843.1:n.*4T>C
ENST00000691576.1:c.638T>C ENSP00000510066.1:p.Met213Thr
ENST00000691937.1:c.767T>C ENSP00000508768.1:p.Met256Thr
ENST00000692487.1:c.*4T>C ENSP00000509534.1:n.*4T>C
ENST00000692683.1:c.701T>C ENSP00000508437.1:p.Met234Thr
ENST00000693150.1:c.623T>C ENSP00000510309.1:p.Met208Thr
ENST00000307102.10:c.767T>C MANE Select ENSP00000302486.5:p.Met256Thr
ENST00000307102.9:c.767T>C ENSP00000302486.4:p.Met256Thr
ENST00000566326.1:c.239T>C ENSP00000456438.1:p.Met80Thr
NM_002755.3:c.767T>C , LRG_725t1:c.767T>C NP_002746.1:p.Met256Thr
XM_011521783.1:c.701T>C XP_011520085.1:p.Met234Thr
XM_011521783.3:c.701T>C XP_011520085.1:p.Met234Thr
XM_017022411.2:c.689T>C XP_016877900.1:p.Met230Thr
XM_017022412.1:c.623T>C XP_016877901.1:p.Met208Thr
XM_017022413.1:c.239T>C XP_016877902.1:p.Met80Thr
NM_002755.4:c.767T>C MANE Select NP_002746.1:p.Met256Thr
Search 100 bp 5'
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