Canonical Allele Identifier: CA392936779
Gene: MAP2K1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66484996A>T , CM000677.2:g.66484996A>T GRCh38
NC_000015.9:g.66777334A>T , CM000677.1:g.66777334A>T GRCh37
NC_000015.8:g.64564388A>T NCBI36
NG_008305.1:g.103124A>T , LRG_725:g.103124A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2232A>T ENSP00000508681.1:n.628-2232A>T
ENST00000685172.1:c.700A>T ENSP00000509604.1:p.Arg234Ter
ENST00000685763.1:c.553A>T ENSP00000509016.1:p.Arg185Ter
ENST00000686347.1:c.569-2232A>T ENSP00000509027.1:n.569-2232A>T
ENST00000687191.1:n.1058A>T
ENST00000687481.1:n.115A>T
ENST00000689951.1:c.751A>T ENSP00000509308.1:p.Arg251Ter
ENST00000691077.1:c.696A>T ENSP00000509843.1:p.Lys232Asn
ENST00000691576.1:c.571A>T ENSP00000510066.1:p.Arg191Ter
ENST00000691937.1:c.700A>T ENSP00000508768.1:p.Arg234Ter
ENST00000692487.1:c.696A>T ENSP00000509534.1:p.Lys232Asn
ENST00000692683.1:c.634A>T ENSP00000508437.1:p.Arg212Ter
ENST00000693150.1:c.556A>T ENSP00000510309.1:p.Arg186Ter
ENST00000307102.10:c.700A>T MANE Select ENSP00000302486.5:p.Arg234Ter
ENST00000307102.9:c.700A>T ENSP00000302486.4:p.Arg234Ter
ENST00000566326.1:c.172A>T ENSP00000456438.1:p.Arg58Ter
NM_002755.3:c.700A>T , LRG_725t1:c.700A>T NP_002746.1:p.Arg234Ter
XM_011521783.1:c.634A>T XP_011520085.1:p.Arg212Ter
XM_011521783.3:c.634A>T XP_011520085.1:p.Arg212Ter
XM_017022411.2:c.622A>T XP_016877900.1:p.Arg208Ter
XM_017022412.1:c.556A>T XP_016877901.1:p.Arg186Ter
XM_017022413.1:c.172A>T XP_016877902.1:p.Arg58Ter
NM_002755.4:c.700A>T MANE Select NP_002746.1:p.Arg234Ter