Canonical Allele Identifier: CA392937324
Gene: MAP2K1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.66777469G>T (hg19) chr15:g.66485131G>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2097G>T ENSP00000508681.1:n.628-2097G>T
ENST00000685172.1:c.835G>T ENSP00000509604.1:p.Val279Leu
ENST00000685763.1:c.688G>T ENSP00000509016.1:p.Val230Leu
ENST00000686347.1:c.569-2097G>T ENSP00000509027.1:n.569-2097G>T
ENST00000687191.1:n.1193G>T
ENST00000687481.1:n.250G>T
ENST00000689951.1:c.886G>T ENSP00000509308.1:p.Val296Leu
ENST00000691077.1:c.*72G>T ENSP00000509843.1:n.*72G>T
ENST00000691576.1:c.706G>T ENSP00000510066.1:p.Val236Leu
ENST00000691937.1:c.835G>T ENSP00000508768.1:p.Val279Leu
ENST00000692487.1:c.*72G>T ENSP00000509534.1:n.*72G>T
ENST00000692683.1:c.769G>T ENSP00000508437.1:p.Val257Leu
ENST00000693150.1:c.691G>T ENSP00000510309.1:p.Val231Leu
ENST00000307102.10:c.835G>T MANE Select ENSP00000302486.5:p.Val279Leu
ENST00000307102.9:c.835G>T ENSP00000302486.4:p.Val279Leu
ENST00000566326.1:c.307G>T ENSP00000456438.1:p.Val103Leu
NM_002755.3:c.835G>T , LRG_725t1:c.835G>T NP_002746.1:p.Val279Leu
XM_011521783.1:c.769G>T XP_011520085.1:p.Val257Leu
XM_011521783.3:c.769G>T XP_011520085.1:p.Val257Leu
XM_017022411.2:c.757G>T XP_016877900.1:p.Val253Leu
XM_017022412.1:c.691G>T XP_016877901.1:p.Val231Leu
XM_017022413.1:c.307G>T XP_016877902.1:p.Val103Leu
NM_002755.4:c.835G>T MANE Select NP_002746.1:p.Val279Leu
Search 100 bp 5'
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