Canonical Allele Identifier: CA2184089895
Gene: MAP2K1 HGNC NCBI
SNAPC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66490524C= , CM000677.2:g.66490524C= GRCh38
NC_000015.9:g.66782862C= , CM000677.1:g.66782862C= GRCh37
NC_000015.8:g.64569916C= NCBI36
NG_008305.1:g.108652C= , LRG_725:g.108652C=
NG_051234.1:g.12292G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.*139C= (MAP2K1) ENSP00000508681.1:n.*139C=
ENST00000685172.1:c.1045C= (MAP2K1) ENSP00000509604.1:p.Leu349=
ENST00000685763.1:c.944C= (MAP2K1) ENSP00000509016.1:p.Ser315=
ENST00000686347.1:c.764C= (MAP2K1) ENSP00000509027.1:p.Ser255=
ENST00000687191.1:n.3371C= (MAP2K1)
ENST00000687481.1:n.506C= (MAP2K1)
ENST00000688689.1:n.846C= (MAP2K1)
ENST00000689951.1:c.1142C= (MAP2K1) ENSP00000509308.1:p.Ser381=
ENST00000691077.1:c.*2250C= (MAP2K1) ENSP00000509843.1:n.*2250C=
ENST00000691576.1:c.962C= (MAP2K1) ENSP00000510066.1:p.Ser321=
ENST00000691937.1:c.*72C= (MAP2K1) ENSP00000508768.1:n.*72C=
ENST00000692487.1:c.*2691C= (MAP2K1) ENSP00000509534.1:n.*2691C=
ENST00000692683.1:c.1025C= (MAP2K1) ENSP00000508437.1:p.Ser342=
ENST00000693150.1:c.947C= (MAP2K1) ENSP00000510309.1:p.Ser316=
ENST00000307102.10:c.1091C= (MAP2K1) MANE Select ENSP00000302486.5:p.Ser364=
ENST00000307102.9:c.1091C= (MAP2K1) ENSP00000302486.4:p.Ser364=
ENST00000395589.6:c.*215G= (SNAPC5) ENSP00000378954.2:n.*215G=
ENST00000563480.6:c.*215G= (SNAPC5) ENSP00000457892.1:n.*215G=
ENST00000566326.1:c.563C= (MAP2K1) ENSP00000456438.1:p.Ser188=
NM_002755.3:c.1091C= , LRG_725t1:c.1091C= (MAP2K1) NP_002746.1:p.Ser364=
NM_006049.2:c.*215G= (SNAPC5) NP_006040.1:n.*215G=
XM_011521783.1:c.1025C= (MAP2K1) XP_011520085.1:p.Ser342=
NM_006049.3:c.*215G= (SNAPC5) NP_006040.1:n.*215G=
NR_138061.1:n.734G= (SNAPC5)
XM_011521783.3:c.1025C= (MAP2K1) XP_011520085.1:p.Ser342=
XM_017022411.2:c.1013C= (MAP2K1) XP_016877900.1:p.Ser338=
XM_017022412.1:c.947C= (MAP2K1) XP_016877901.1:p.Ser316=
XM_017022413.1:c.563C= (MAP2K1) XP_016877902.1:p.Ser188=
NM_002755.4:c.1091C= (MAP2K1) MANE Select NP_002746.1:p.Ser364=
NM_006049.4:c.*215G= (SNAPC5) NP_006040.1:n.*215G=
NR_138061.2:n.681G= (SNAPC5)