Canonical Allele Identifier: CA392937119
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs753236280
MyVariant Identifiers: chr15:g.66777406G>C (hg19) chr15:g.66485068G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485068G>C , CM000677.2:g.66485068G>C GRCh38
NC_000015.9:g.66777406G>C , CM000677.1:g.66777406G>C GRCh37
NC_000015.8:g.64564460G>C NCBI36
NG_008305.1:g.103196G>C , LRG_725:g.103196G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000684779.1:c.628-2160G>C ENSP00000508681.1:n.628-2160G>C
ENST00000685172.1:c.772G>C ENSP00000509604.1:p.Val258Leu
ENST00000685763.1:c.625G>C ENSP00000509016.1:p.Val209Leu
ENST00000686347.1:c.569-2160G>C ENSP00000509027.1:n.569-2160G>C
ENST00000687191.1:n.1130G>C
ENST00000687481.1:n.187G>C
ENST00000689951.1:c.823G>C ENSP00000509308.1:p.Val275Leu
ENST00000691077.1:c.*9G>C ENSP00000509843.1:n.*9G>C
ENST00000691576.1:c.643G>C ENSP00000510066.1:p.Val215Leu
ENST00000691937.1:c.772G>C ENSP00000508768.1:p.Val258Leu
ENST00000692487.1:c.*9G>C ENSP00000509534.1:n.*9G>C
ENST00000692683.1:c.706G>C ENSP00000508437.1:p.Val236Leu
ENST00000693150.1:c.628G>C ENSP00000510309.1:p.Val210Leu
ENST00000307102.10:c.772G>C MANE Select ENSP00000302486.5:p.Val258Leu
ENST00000307102.9:c.772G>C ENSP00000302486.4:p.Val258Leu
ENST00000566326.1:c.244G>C ENSP00000456438.1:p.Val82Leu
NM_002755.3:c.772G>C , LRG_725t1:c.772G>C NP_002746.1:p.Val258Leu
XM_011521783.1:c.706G>C XP_011520085.1:p.Val236Leu
XM_011521783.3:c.706G>C XP_011520085.1:p.Val236Leu
XM_017022411.2:c.694G>C XP_016877900.1:p.Val232Leu
XM_017022412.1:c.628G>C XP_016877901.1:p.Val210Leu
XM_017022413.1:c.244G>C XP_016877902.1:p.Val82Leu
NM_002755.4:c.772G>C MANE Select NP_002746.1:p.Val258Leu
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