Canonical Allele Identifier: CA392937432
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140675485
MyVariant Identifiers: chr15:g.66777523C>G (hg19) chr15:g.66485185C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485185C>G , CM000677.2:g.66485185C>G GRCh38
NC_000015.9:g.66777523C>G , CM000677.1:g.66777523C>G GRCh37
NC_000015.8:g.64564577C>G NCBI36
NG_008305.1:g.103313C>G , LRG_725:g.103313C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2043C>G ENSP00000508681.1:n.628-2043C>G
ENST00000685172.1:c.889C>G ENSP00000509604.1:p.Leu297Val
ENST00000685763.1:c.742C>G ENSP00000509016.1:p.Leu248Val
ENST00000686347.1:c.569-2043C>G ENSP00000509027.1:n.569-2043C>G
ENST00000687191.1:n.1247C>G
ENST00000687481.1:n.304C>G
ENST00000689951.1:c.940C>G ENSP00000509308.1:p.Leu314Val
ENST00000691077.1:c.*126C>G ENSP00000509843.1:n.*126C>G
ENST00000691576.1:c.760C>G ENSP00000510066.1:p.Leu254Val
ENST00000691937.1:c.889C>G ENSP00000508768.1:p.Leu297Val
ENST00000692487.1:c.*126C>G ENSP00000509534.1:n.*126C>G
ENST00000692683.1:c.823C>G ENSP00000508437.1:p.Leu275Val
ENST00000693150.1:c.745C>G ENSP00000510309.1:p.Leu249Val
ENST00000307102.10:c.889C>G MANE Select ENSP00000302486.5:p.Leu297Val
ENST00000307102.9:c.889C>G ENSP00000302486.4:p.Leu297Val
ENST00000566326.1:c.361C>G ENSP00000456438.1:p.Leu121Val
NM_002755.3:c.889C>G , LRG_725t1:c.889C>G NP_002746.1:p.Leu297Val
XM_011521783.1:c.823C>G XP_011520085.1:p.Leu275Val
XM_011521783.3:c.823C>G XP_011520085.1:p.Leu275Val
XM_017022411.2:c.811C>G XP_016877900.1:p.Leu271Val
XM_017022412.1:c.745C>G XP_016877901.1:p.Leu249Val
XM_017022413.1:c.361C>G XP_016877902.1:p.Leu121Val
NM_002755.4:c.889C>G MANE Select NP_002746.1:p.Leu297Val
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