Canonical Allele Identifier: CA392937440
Gene: MAP2K1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.66777527G>T (hg19) chr15:g.66485189G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485189G>T , CM000677.2:g.66485189G>T GRCh38
NC_000015.9:g.66777527G>T , CM000677.1:g.66777527G>T GRCh37
NC_000015.8:g.64564581G>T NCBI36
NG_008305.1:g.103317G>T , LRG_725:g.103317G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2039G>T ENSP00000508681.1:n.628-2039G>T
ENST00000685172.1:c.893G>T ENSP00000509604.1:p.Ser298Ile
ENST00000685763.1:c.746G>T ENSP00000509016.1:p.Ser249Ile
ENST00000686347.1:c.569-2039G>T ENSP00000509027.1:n.569-2039G>T
ENST00000687191.1:n.1251G>T
ENST00000687481.1:n.308G>T
ENST00000689951.1:c.944G>T ENSP00000509308.1:p.Ser315Ile
ENST00000691077.1:c.*130G>T ENSP00000509843.1:n.*130G>T
ENST00000691576.1:c.764G>T ENSP00000510066.1:p.Ser255Ile
ENST00000691937.1:c.893G>T ENSP00000508768.1:p.Ser298Ile
ENST00000692487.1:c.*130G>T ENSP00000509534.1:n.*130G>T
ENST00000692683.1:c.827G>T ENSP00000508437.1:p.Ser276Ile
ENST00000693150.1:c.749G>T ENSP00000510309.1:p.Ser250Ile
ENST00000307102.10:c.893G>T MANE Select ENSP00000302486.5:p.Ser298Ile
ENST00000307102.9:c.893G>T ENSP00000302486.4:p.Ser298Ile
ENST00000566326.1:c.365G>T ENSP00000456438.1:p.Ser122Ile
NM_002755.3:c.893G>T , LRG_725t1:c.893G>T NP_002746.1:p.Ser298Ile
XM_011521783.1:c.827G>T XP_011520085.1:p.Ser276Ile
XM_011521783.3:c.827G>T XP_011520085.1:p.Ser276Ile
XM_017022411.2:c.815G>T XP_016877900.1:p.Ser272Ile
XM_017022412.1:c.749G>T XP_016877901.1:p.Ser250Ile
XM_017022413.1:c.365G>T XP_016877902.1:p.Ser122Ile
NM_002755.4:c.893G>T MANE Select NP_002746.1:p.Ser298Ile
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