Canonical Allele Identifier: CA392937269
Gene: MAP2K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 496175
ClinVar RCV Id: RCV000589002
dbSNP Id: rs1555420658
MyVariant Identifiers: chr15:g.66777446T>G (hg19) chr15:g.66485108T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485108T>G , CM000677.2:g.66485108T>G GRCh38
NC_000015.9:g.66777446T>G , CM000677.1:g.66777446T>G GRCh37
NC_000015.8:g.64564500T>G NCBI36
NG_008305.1:g.103236T>G , LRG_725:g.103236T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2120T>G ENSP00000508681.1:n.628-2120T>G
ENST00000685172.1:c.812T>G ENSP00000509604.1:p.Leu271Arg
ENST00000685763.1:c.665T>G ENSP00000509016.1:p.Leu222Arg
ENST00000686347.1:c.569-2120T>G ENSP00000509027.1:n.569-2120T>G
ENST00000687191.1:n.1170T>G
ENST00000687481.1:n.227T>G
ENST00000689951.1:c.863T>G ENSP00000509308.1:p.Leu288Arg
ENST00000691077.1:c.*49T>G ENSP00000509843.1:n.*49T>G
ENST00000691576.1:c.683T>G ENSP00000510066.1:p.Leu228Arg
ENST00000691937.1:c.812T>G ENSP00000508768.1:p.Leu271Arg
ENST00000692487.1:c.*49T>G ENSP00000509534.1:n.*49T>G
ENST00000692683.1:c.746T>G ENSP00000508437.1:p.Leu249Arg
ENST00000693150.1:c.668T>G ENSP00000510309.1:p.Leu223Arg
ENST00000307102.10:c.812T>G MANE Select ENSP00000302486.5:p.Leu271Arg
ENST00000307102.9:c.812T>G ENSP00000302486.4:p.Leu271Arg
ENST00000566326.1:c.284T>G ENSP00000456438.1:p.Leu95Arg
NM_002755.3:c.812T>G , LRG_725t1:c.812T>G NP_002746.1:p.Leu271Arg
XM_011521783.1:c.746T>G XP_011520085.1:p.Leu249Arg
XM_011521783.3:c.746T>G XP_011520085.1:p.Leu249Arg
XM_017022411.2:c.734T>G XP_016877900.1:p.Leu245Arg
XM_017022412.1:c.668T>G XP_016877901.1:p.Leu223Arg
XM_017022413.1:c.284T>G XP_016877902.1:p.Leu95Arg
NM_002755.4:c.812T>G MANE Select NP_002746.1:p.Leu271Arg
Search 100 bp 5'
Search 100 bp 3'