Canonical Allele Identifier: CA392936319
Gene: MAP2K1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66481820A>C , CM000677.2:g.66481820A>C GRCh38
NC_000015.9:g.66774158A>C , CM000677.1:g.66774158A>C GRCh37
NC_000015.8:g.64561212A>C NCBI36
NG_008305.1:g.99948A>C , LRG_725:g.99948A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.568A>C ENSP00000508681.1:p.Ser190Arg
ENST00000685172.1:c.634A>C ENSP00000509604.1:p.Ser212Arg
ENST00000685763.1:c.487A>C ENSP00000509016.1:p.Ser163Arg
ENST00000686347.1:c.569-5408A>C ENSP00000509027.1:n.569-5408A>C
ENST00000687191.1:n.992A>C
ENST00000689951.1:c.685A>C ENSP00000509308.1:p.Ser229Arg
ENST00000691077.1:c.634A>C ENSP00000509843.1:p.Ser212Arg
ENST00000691576.1:c.569-3174A>C ENSP00000510066.1:n.569-3174A>C
ENST00000691937.1:c.634A>C ENSP00000508768.1:p.Ser212Arg
ENST00000692487.1:c.634A>C ENSP00000509534.1:p.Ser212Arg
ENST00000692683.1:c.568A>C ENSP00000508437.1:p.Ser190Arg
ENST00000693150.1:c.490A>C ENSP00000510309.1:p.Ser164Arg
ENST00000307102.10:c.634A>C MANE Select ENSP00000302486.5:p.Ser212Arg
ENST00000307102.9:c.634A>C ENSP00000302486.4:p.Ser212Arg
ENST00000566326.1:c.106A>C ENSP00000456438.1:p.Ser36Arg
NM_002755.3:c.634A>C , LRG_725t1:c.634A>C NP_002746.1:p.Ser212Arg
XM_011521783.1:c.568A>C XP_011520085.1:p.Ser190Arg
XM_011521783.3:c.568A>C XP_011520085.1:p.Ser190Arg
XM_017022411.2:c.556A>C XP_016877900.1:p.Ser186Arg
XM_017022412.1:c.490A>C XP_016877901.1:p.Ser164Arg
XM_017022413.1:c.106A>C XP_016877902.1:p.Ser36Arg
NM_002755.4:c.634A>C MANE Select NP_002746.1:p.Ser212Arg