Canonical Allele Identifier: CA392936958
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs761435303
MyVariant Identifiers: chr15:g.66777358G>C (hg19) chr15:g.66485020G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485020G>C , CM000677.2:g.66485020G>C GRCh38
NC_000015.9:g.66777358G>C , CM000677.1:g.66777358G>C GRCh37
NC_000015.8:g.64564412G>C NCBI36
NG_008305.1:g.103148G>C , LRG_725:g.103148G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2208G>C ENSP00000508681.1:n.628-2208G>C
ENST00000685172.1:c.724G>C ENSP00000509604.1:p.Val242Leu
ENST00000685763.1:c.577G>C ENSP00000509016.1:p.Val193Leu
ENST00000686347.1:c.569-2208G>C ENSP00000509027.1:n.569-2208G>C
ENST00000687191.1:n.1082G>C
ENST00000687481.1:n.139G>C
ENST00000689951.1:c.775G>C ENSP00000509308.1:p.Val259Leu
ENST00000691077.1:c.720G>C ENSP00000509843.1:p.Leu240=
ENST00000691576.1:c.595G>C ENSP00000510066.1:p.Val199Leu
ENST00000691937.1:c.724G>C ENSP00000508768.1:p.Val242Leu
ENST00000692487.1:c.720G>C ENSP00000509534.1:p.Leu240=
ENST00000692683.1:c.658G>C ENSP00000508437.1:p.Val220Leu
ENST00000693150.1:c.580G>C ENSP00000510309.1:p.Val194Leu
ENST00000307102.10:c.724G>C MANE Select ENSP00000302486.5:p.Val242Leu
ENST00000307102.9:c.724G>C ENSP00000302486.4:p.Val242Leu
ENST00000566326.1:c.196G>C ENSP00000456438.1:p.Val66Leu
NM_002755.3:c.724G>C , LRG_725t1:c.724G>C NP_002746.1:p.Val242Leu
XM_011521783.1:c.658G>C XP_011520085.1:p.Val220Leu
XM_011521783.3:c.658G>C XP_011520085.1:p.Val220Leu
XM_017022411.2:c.646G>C XP_016877900.1:p.Val216Leu
XM_017022412.1:c.580G>C XP_016877901.1:p.Val194Leu
XM_017022413.1:c.196G>C XP_016877902.1:p.Val66Leu
NM_002755.4:c.724G>C MANE Select NP_002746.1:p.Val242Leu
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