Canonical Allele Identifier: CA392937292
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140674996
MyVariant Identifiers: chr15:g.66777457T>A (hg19) chr15:g.66485119T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485119T>A , CM000677.2:g.66485119T>A GRCh38
NC_000015.9:g.66777457T>A , CM000677.1:g.66777457T>A GRCh37
NC_000015.8:g.64564511T>A NCBI36
NG_008305.1:g.103247T>A , LRG_725:g.103247T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2109T>A ENSP00000508681.1:n.628-2109T>A
ENST00000685172.1:c.823T>A ENSP00000509604.1:p.Phe275Ile
ENST00000685763.1:c.676T>A ENSP00000509016.1:p.Phe226Ile
ENST00000686347.1:c.569-2109T>A ENSP00000509027.1:n.569-2109T>A
ENST00000687191.1:n.1181T>A
ENST00000687481.1:n.238T>A
ENST00000689951.1:c.874T>A ENSP00000509308.1:p.Phe292Ile
ENST00000691077.1:c.*60T>A ENSP00000509843.1:n.*60T>A
ENST00000691576.1:c.694T>A ENSP00000510066.1:p.Phe232Ile
ENST00000691937.1:c.823T>A ENSP00000508768.1:p.Phe275Ile
ENST00000692487.1:c.*60T>A ENSP00000509534.1:n.*60T>A
ENST00000692683.1:c.757T>A ENSP00000508437.1:p.Phe253Ile
ENST00000693150.1:c.679T>A ENSP00000510309.1:p.Phe227Ile
ENST00000307102.10:c.823T>A MANE Select ENSP00000302486.5:p.Phe275Ile
ENST00000307102.9:c.823T>A ENSP00000302486.4:p.Phe275Ile
ENST00000566326.1:c.295T>A ENSP00000456438.1:p.Phe99Ile
NM_002755.3:c.823T>A , LRG_725t1:c.823T>A NP_002746.1:p.Phe275Ile
XM_011521783.1:c.757T>A XP_011520085.1:p.Phe253Ile
XM_011521783.3:c.757T>A XP_011520085.1:p.Phe253Ile
XM_017022411.2:c.745T>A XP_016877900.1:p.Phe249Ile
XM_017022412.1:c.679T>A XP_016877901.1:p.Phe227Ile
XM_017022413.1:c.295T>A XP_016877902.1:p.Phe99Ile
NM_002755.4:c.823T>A MANE Select NP_002746.1:p.Phe275Ile
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