Canonical Allele Identifier: CA392937185
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140674698
MyVariant Identifiers: chr15:g.66777422T>A (hg19) chr15:g.66485084T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485084T>A , CM000677.2:g.66485084T>A GRCh38
NC_000015.9:g.66777422T>A , CM000677.1:g.66777422T>A GRCh37
NC_000015.8:g.64564476T>A NCBI36
NG_008305.1:g.103212T>A , LRG_725:g.103212T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2144T>A ENSP00000508681.1:n.628-2144T>A
ENST00000685172.1:c.788T>A ENSP00000509604.1:p.Ile263Asn
ENST00000685763.1:c.641T>A ENSP00000509016.1:p.Ile214Asn
ENST00000686347.1:c.569-2144T>A ENSP00000509027.1:n.569-2144T>A
ENST00000687191.1:n.1146T>A
ENST00000687481.1:n.203T>A
ENST00000689951.1:c.839T>A ENSP00000509308.1:p.Ile280Asn
ENST00000691077.1:c.*25T>A ENSP00000509843.1:n.*25T>A
ENST00000691576.1:c.659T>A ENSP00000510066.1:p.Ile220Asn
ENST00000691937.1:c.788T>A ENSP00000508768.1:p.Ile263Asn
ENST00000692487.1:c.*25T>A ENSP00000509534.1:n.*25T>A
ENST00000692683.1:c.722T>A ENSP00000508437.1:p.Ile241Asn
ENST00000693150.1:c.644T>A ENSP00000510309.1:p.Ile215Asn
ENST00000307102.10:c.788T>A MANE Select ENSP00000302486.5:p.Ile263Asn
ENST00000307102.9:c.788T>A ENSP00000302486.4:p.Ile263Asn
ENST00000566326.1:c.260T>A ENSP00000456438.1:p.Ile87Asn
NM_002755.3:c.788T>A , LRG_725t1:c.788T>A NP_002746.1:p.Ile263Asn
XM_011521783.1:c.722T>A XP_011520085.1:p.Ile241Asn
XM_011521783.3:c.722T>A XP_011520085.1:p.Ile241Asn
XM_017022411.2:c.710T>A XP_016877900.1:p.Ile237Asn
XM_017022412.1:c.644T>A XP_016877901.1:p.Ile215Asn
XM_017022413.1:c.260T>A XP_016877902.1:p.Ile87Asn
NM_002755.4:c.788T>A MANE Select NP_002746.1:p.Ile263Asn
Search 100 bp 5'
Search 100 bp 3'