Canonical Allele Identifier: CA392936378
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140667953

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66481833T>A , CM000677.2:g.66481833T>A GRCh38
NC_000015.9:g.66774171T>A , CM000677.1:g.66774171T>A GRCh37
NC_000015.8:g.64561225T>A NCBI36
NG_008305.1:g.99961T>A , LRG_725:g.99961T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000684779.1:c.581T>A ENSP00000508681.1:p.Ile194Asn
ENST00000685172.1:c.647T>A ENSP00000509604.1:p.Ile216Asn
ENST00000685763.1:c.500T>A ENSP00000509016.1:p.Ile167Asn
ENST00000686347.1:c.569-5395T>A ENSP00000509027.1:n.569-5395T>A
ENST00000687191.1:n.1005T>A
ENST00000689951.1:c.698T>A ENSP00000509308.1:p.Ile233Asn
ENST00000691077.1:c.647T>A ENSP00000509843.1:p.Ile216Asn
ENST00000691576.1:c.569-3161T>A ENSP00000510066.1:n.569-3161T>A
ENST00000691937.1:c.647T>A ENSP00000508768.1:p.Ile216Asn
ENST00000692487.1:c.647T>A ENSP00000509534.1:p.Ile216Asn
ENST00000692683.1:c.581T>A ENSP00000508437.1:p.Ile194Asn
ENST00000693150.1:c.503T>A ENSP00000510309.1:p.Ile168Asn
ENST00000307102.10:c.647T>A MANE Select ENSP00000302486.5:p.Ile216Asn
ENST00000307102.9:c.647T>A ENSP00000302486.4:p.Ile216Asn
ENST00000566326.1:c.119T>A ENSP00000456438.1:p.Ile40Asn
NM_002755.3:c.647T>A , LRG_725t1:c.647T>A NP_002746.1:p.Ile216Asn
XM_011521783.1:c.581T>A XP_011520085.1:p.Ile194Asn
XM_011521783.3:c.581T>A XP_011520085.1:p.Ile194Asn
XM_017022411.2:c.569T>A XP_016877900.1:p.Ile190Asn
XM_017022412.1:c.503T>A XP_016877901.1:p.Ile168Asn
XM_017022413.1:c.119T>A XP_016877902.1:p.Ile40Asn
NM_002755.4:c.647T>A MANE Select NP_002746.1:p.Ile216Asn