Canonical Allele Identifier: CA392936940
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140673890
MyVariant Identifiers: chr15:g.66777350A>T (hg19) chr15:g.66485012A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485012A>T , CM000677.2:g.66485012A>T GRCh38
NC_000015.9:g.66777350A>T , CM000677.1:g.66777350A>T GRCh37
NC_000015.8:g.64564404A>T NCBI36
NG_008305.1:g.103140A>T , LRG_725:g.103140A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2216A>T ENSP00000508681.1:n.628-2216A>T
ENST00000685172.1:c.716A>T ENSP00000509604.1:p.His239Leu
ENST00000685763.1:c.569A>T ENSP00000509016.1:p.His190Leu
ENST00000686347.1:c.569-2216A>T ENSP00000509027.1:n.569-2216A>T
ENST00000687191.1:n.1074A>T
ENST00000687481.1:n.131A>T
ENST00000689951.1:c.767A>T ENSP00000509308.1:p.His256Leu
ENST00000691077.1:c.712A>T ENSP00000509843.1:p.Ile238Phe
ENST00000691576.1:c.587A>T ENSP00000510066.1:p.His196Leu
ENST00000691937.1:c.716A>T ENSP00000508768.1:p.His239Leu
ENST00000692487.1:c.712A>T ENSP00000509534.1:p.Ile238Phe
ENST00000692683.1:c.650A>T ENSP00000508437.1:p.His217Leu
ENST00000693150.1:c.572A>T ENSP00000510309.1:p.His191Leu
ENST00000307102.10:c.716A>T MANE Select ENSP00000302486.5:p.His239Leu
ENST00000307102.9:c.716A>T ENSP00000302486.4:p.His239Leu
ENST00000566326.1:c.188A>T ENSP00000456438.1:p.His63Leu
NM_002755.3:c.716A>T , LRG_725t1:c.716A>T NP_002746.1:p.His239Leu
XM_011521783.1:c.650A>T XP_011520085.1:p.His217Leu
XM_011521783.3:c.650A>T XP_011520085.1:p.His217Leu
XM_017022411.2:c.638A>T XP_016877900.1:p.His213Leu
XM_017022412.1:c.572A>T XP_016877901.1:p.His191Leu
XM_017022413.1:c.188A>T XP_016877902.1:p.His63Leu
NM_002755.4:c.716A>T MANE Select NP_002746.1:p.His239Leu
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