Canonical Allele Identifier: CA392937059
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140674322
MyVariant Identifiers: chr15:g.66777394G>A (hg19) chr15:g.66485056G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485056G>A , CM000677.2:g.66485056G>A GRCh38
NC_000015.9:g.66777394G>A , CM000677.1:g.66777394G>A GRCh37
NC_000015.8:g.64564448G>A NCBI36
NG_008305.1:g.103184G>A , LRG_725:g.103184G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000684779.1:c.628-2172G>A ENSP00000508681.1:n.628-2172G>A
ENST00000685172.1:c.760G>A ENSP00000509604.1:p.Val254Ile
ENST00000685763.1:c.613G>A ENSP00000509016.1:p.Val205Ile
ENST00000686347.1:c.569-2172G>A ENSP00000509027.1:n.569-2172G>A
ENST00000687191.1:n.1118G>A
ENST00000687481.1:n.175G>A
ENST00000689951.1:c.811G>A ENSP00000509308.1:p.Val271Ile
ENST00000691077.1:c.756G>A ENSP00000509843.1:p.Trp252Ter
ENST00000691576.1:c.631G>A ENSP00000510066.1:p.Val211Ile
ENST00000691937.1:c.760G>A ENSP00000508768.1:p.Val254Ile
ENST00000692487.1:c.756G>A ENSP00000509534.1:p.Trp252Ter
ENST00000692683.1:c.694G>A ENSP00000508437.1:p.Val232Ile
ENST00000693150.1:c.616G>A ENSP00000510309.1:p.Val206Ile
ENST00000307102.10:c.760G>A MANE Select ENSP00000302486.5:p.Val254Ile
ENST00000307102.9:c.760G>A ENSP00000302486.4:p.Val254Ile
ENST00000566326.1:c.232G>A ENSP00000456438.1:p.Val78Ile
NM_002755.3:c.760G>A , LRG_725t1:c.760G>A NP_002746.1:p.Val254Ile
XM_011521783.1:c.694G>A XP_011520085.1:p.Val232Ile
XM_011521783.3:c.694G>A XP_011520085.1:p.Val232Ile
XM_017022411.2:c.682G>A XP_016877900.1:p.Val228Ile
XM_017022412.1:c.616G>A XP_016877901.1:p.Val206Ile
XM_017022413.1:c.232G>A XP_016877902.1:p.Val78Ile
NM_002755.4:c.760G>A MANE Select NP_002746.1:p.Val254Ile
Search 100 bp 5'
Search 100 bp 3'