Canonical Allele Identifier: CA2184089746
Gene: MAP2K1 HGNC NCBI
SNAPC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66490447G= , CM000677.2:g.66490447G= GRCh38
NC_000015.9:g.66782785G= , CM000677.1:g.66782785G= GRCh37
NC_000015.8:g.64569839G= NCBI36
NG_008305.1:g.108575G= , LRG_725:g.108575G=
NG_051234.1:g.12369C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.*117-55G= (MAP2K1) ENSP00000508681.1:n.*117-55G=
ENST00000685172.1:c.1023-55G= (MAP2K1) ENSP00000509604.1:n.1023-55G=
ENST00000685763.1:c.922-55G= (MAP2K1) ENSP00000509016.1:n.922-55G=
ENST00000686347.1:c.742-55G= (MAP2K1) ENSP00000509027.1:n.742-55G=
ENST00000687191.1:n.3349-55G= (MAP2K1)
ENST00000687481.1:n.484-55G= (MAP2K1)
ENST00000688689.1:n.824-55G= (MAP2K1)
ENST00000689951.1:c.1120-55G= (MAP2K1) ENSP00000509308.1:n.1120-55G=
ENST00000691077.1:c.*2228-55G= (MAP2K1) ENSP00000509843.1:n.*2228-55G=
ENST00000691576.1:c.940-55G= (MAP2K1) ENSP00000510066.1:n.940-55G=
ENST00000691937.1:c.*50-55G= (MAP2K1) ENSP00000508768.1:n.*50-55G=
ENST00000692487.1:c.*2669-55G= (MAP2K1) ENSP00000509534.1:n.*2669-55G=
ENST00000692683.1:c.1003-55G= (MAP2K1) ENSP00000508437.1:n.1003-55G=
ENST00000693150.1:c.925-55G= (MAP2K1) ENSP00000510309.1:n.925-55G=
ENST00000307102.10:c.1069-55G= (MAP2K1) MANE Select ENSP00000302486.5:n.1069-55G=
ENST00000307102.9:c.1069-55G= (MAP2K1) ENSP00000302486.4:n.1069-55G=
ENST00000395589.6:c.*292C= (SNAPC5) ENSP00000378954.2:n.*292C=
ENST00000563480.6:c.*292C= (SNAPC5) ENSP00000457892.1:n.*292C=
ENST00000566326.1:c.541-55G= (MAP2K1) ENSP00000456438.1:n.541-55G=
NM_002755.3:c.1069-55G= , LRG_725t1:c.1069-55G= (MAP2K1) NP_002746.1:n.1069-55G=
NM_006049.2:c.*292C= (SNAPC5) NP_006040.1:n.*292C=
XM_011521783.1:c.1003-55G= (MAP2K1) XP_011520085.1:n.1003-55G=
NM_006049.3:c.*292C= (SNAPC5) NP_006040.1:n.*292C=
NR_138061.1:n.811C= (SNAPC5)
XM_011521783.3:c.1003-55G= (MAP2K1) XP_011520085.1:n.1003-55G=
XM_017022411.2:c.991-55G= (MAP2K1) XP_016877900.1:n.991-55G=
XM_017022412.1:c.925-55G= (MAP2K1) XP_016877901.1:n.925-55G=
XM_017022413.1:c.541-55G= (MAP2K1) XP_016877902.1:n.541-55G=
NM_002755.4:c.1069-55G= (MAP2K1) MANE Select NP_002746.1:n.1069-55G=
NM_006049.4:c.*292C= (SNAPC5) NP_006040.1:n.*292C=
NR_138061.2:n.758C= (SNAPC5)