Canonical Allele Identifier: CA2184089892
Gene: MAP2K1 HGNC NCBI
SNAPC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66490521G= , CM000677.2:g.66490521G= GRCh38
NC_000015.9:g.66782859G= , CM000677.1:g.66782859G= GRCh37
NC_000015.8:g.64569913G= NCBI36
NG_008305.1:g.108649G= , LRG_725:g.108649G=
NG_051234.1:g.12295C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.*136G= (MAP2K1) ENSP00000508681.1:n.*136G=
ENST00000685172.1:c.1042G= (MAP2K1) ENSP00000509604.1:p.Asp348=
ENST00000685763.1:c.941G= (MAP2K1) ENSP00000509016.1:p.Arg314=
ENST00000686347.1:c.761G= (MAP2K1) ENSP00000509027.1:p.Arg254=
ENST00000687191.1:n.3368G= (MAP2K1)
ENST00000687481.1:n.503G= (MAP2K1)
ENST00000688689.1:n.843G= (MAP2K1)
ENST00000689951.1:c.1139G= (MAP2K1) ENSP00000509308.1:p.Arg380=
ENST00000691077.1:c.*2247G= (MAP2K1) ENSP00000509843.1:n.*2247G=
ENST00000691576.1:c.959G= (MAP2K1) ENSP00000510066.1:p.Arg320=
ENST00000691937.1:c.*69G= (MAP2K1) ENSP00000508768.1:n.*69G=
ENST00000692487.1:c.*2688G= (MAP2K1) ENSP00000509534.1:n.*2688G=
ENST00000692683.1:c.1022G= (MAP2K1) ENSP00000508437.1:p.Arg341=
ENST00000693150.1:c.944G= (MAP2K1) ENSP00000510309.1:p.Arg315=
ENST00000307102.10:c.1088G= (MAP2K1) MANE Select ENSP00000302486.5:p.Arg363=
ENST00000307102.9:c.1088G= (MAP2K1) ENSP00000302486.4:p.Arg363=
ENST00000395589.6:c.*218C= (SNAPC5) ENSP00000378954.2:n.*218C=
ENST00000563480.6:c.*218C= (SNAPC5) ENSP00000457892.1:n.*218C=
ENST00000566326.1:c.560G= (MAP2K1) ENSP00000456438.1:p.Arg187=
NM_002755.3:c.1088G= , LRG_725t1:c.1088G= (MAP2K1) NP_002746.1:p.Arg363=
NM_006049.2:c.*218C= (SNAPC5) NP_006040.1:n.*218C=
XM_011521783.1:c.1022G= (MAP2K1) XP_011520085.1:p.Arg341=
NM_006049.3:c.*218C= (SNAPC5) NP_006040.1:n.*218C=
NR_138061.1:n.737C= (SNAPC5)
XM_011521783.3:c.1022G= (MAP2K1) XP_011520085.1:p.Arg341=
XM_017022411.2:c.1010G= (MAP2K1) XP_016877900.1:p.Arg337=
XM_017022412.1:c.944G= (MAP2K1) XP_016877901.1:p.Arg315=
XM_017022413.1:c.560G= (MAP2K1) XP_016877902.1:p.Arg187=
NM_002755.4:c.1088G= (MAP2K1) MANE Select NP_002746.1:p.Arg363=
NM_006049.4:c.*218C= (SNAPC5) NP_006040.1:n.*218C=
NR_138061.2:n.684C= (SNAPC5)