Canonical Allele Identifier: CA392937322
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140675099
MyVariant Identifiers: chr15:g.66777469G>A (hg19) chr15:g.66485131G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485131G>A , CM000677.2:g.66485131G>A GRCh38
NC_000015.9:g.66777469G>A , CM000677.1:g.66777469G>A GRCh37
NC_000015.8:g.64564523G>A NCBI36
NG_008305.1:g.103259G>A , LRG_725:g.103259G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2097G>A ENSP00000508681.1:n.628-2097G>A
ENST00000685172.1:c.835G>A ENSP00000509604.1:p.Val279Met
ENST00000685763.1:c.688G>A ENSP00000509016.1:p.Val230Met
ENST00000686347.1:c.569-2097G>A ENSP00000509027.1:n.569-2097G>A
ENST00000687191.1:n.1193G>A
ENST00000687481.1:n.250G>A
ENST00000689951.1:c.886G>A ENSP00000509308.1:p.Val296Met
ENST00000691077.1:c.*72G>A ENSP00000509843.1:n.*72G>A
ENST00000691576.1:c.706G>A ENSP00000510066.1:p.Val236Met
ENST00000691937.1:c.835G>A ENSP00000508768.1:p.Val279Met
ENST00000692487.1:c.*72G>A ENSP00000509534.1:n.*72G>A
ENST00000692683.1:c.769G>A ENSP00000508437.1:p.Val257Met
ENST00000693150.1:c.691G>A ENSP00000510309.1:p.Val231Met
ENST00000307102.10:c.835G>A MANE Select ENSP00000302486.5:p.Val279Met
ENST00000307102.9:c.835G>A ENSP00000302486.4:p.Val279Met
ENST00000566326.1:c.307G>A ENSP00000456438.1:p.Val103Met
NM_002755.3:c.835G>A , LRG_725t1:c.835G>A NP_002746.1:p.Val279Met
XM_011521783.1:c.769G>A XP_011520085.1:p.Val257Met
XM_011521783.3:c.769G>A XP_011520085.1:p.Val257Met
XM_017022411.2:c.757G>A XP_016877900.1:p.Val253Met
XM_017022412.1:c.691G>A XP_016877901.1:p.Val231Met
XM_017022413.1:c.307G>A XP_016877902.1:p.Val103Met
NM_002755.4:c.835G>A MANE Select NP_002746.1:p.Val279Met
Search 100 bp 5'
Search 100 bp 3'