Canonical Allele Identifier: CA2184089859
Gene: MAP2K1 HGNC NCBI
SNAPC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66490502G= , CM000677.2:g.66490502G= GRCh38
NC_000015.9:g.66782840G= , CM000677.1:g.66782840G= GRCh37
NC_000015.8:g.64569894G= NCBI36
NG_008305.1:g.108630G= , LRG_725:g.108630G=
NG_051234.1:g.12314C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.*117G= (MAP2K1) ENSP00000508681.1:n.*117G=
ENST00000685172.1:c.1023G= (MAP2K1) ENSP00000509604.1:p.Trp341=
ENST00000685763.1:c.922G= (MAP2K1) ENSP00000509016.1:p.Val308=
ENST00000686347.1:c.742G= (MAP2K1) ENSP00000509027.1:p.Val248=
ENST00000687191.1:n.3349G= (MAP2K1)
ENST00000687481.1:n.484G= (MAP2K1)
ENST00000688689.1:n.824G= (MAP2K1)
ENST00000689951.1:c.1120G= (MAP2K1) ENSP00000509308.1:p.Val374=
ENST00000691077.1:c.*2228G= (MAP2K1) ENSP00000509843.1:n.*2228G=
ENST00000691576.1:c.940G= (MAP2K1) ENSP00000510066.1:p.Val314=
ENST00000691937.1:c.*50G= (MAP2K1) ENSP00000508768.1:n.*50G=
ENST00000692487.1:c.*2669G= (MAP2K1) ENSP00000509534.1:n.*2669G=
ENST00000692683.1:c.1003G= (MAP2K1) ENSP00000508437.1:p.Val335=
ENST00000693150.1:c.925G= (MAP2K1) ENSP00000510309.1:p.Val309=
ENST00000307102.10:c.1069G= (MAP2K1) MANE Select ENSP00000302486.5:p.Val357=
ENST00000307102.9:c.1069G= (MAP2K1) ENSP00000302486.4:p.Val357=
ENST00000395589.6:c.*237C= (SNAPC5) ENSP00000378954.2:n.*237C=
ENST00000563480.6:c.*237C= (SNAPC5) ENSP00000457892.1:n.*237C=
ENST00000566326.1:c.541G= (MAP2K1) ENSP00000456438.1:p.Val181=
NM_002755.3:c.1069G= , LRG_725t1:c.1069G= (MAP2K1) NP_002746.1:p.Val357=
NM_006049.2:c.*237C= (SNAPC5) NP_006040.1:n.*237C=
XM_011521783.1:c.1003G= (MAP2K1) XP_011520085.1:p.Val335=
NM_006049.3:c.*237C= (SNAPC5) NP_006040.1:n.*237C=
NR_138061.1:n.756C= (SNAPC5)
XM_011521783.3:c.1003G= (MAP2K1) XP_011520085.1:p.Val335=
XM_017022411.2:c.991G= (MAP2K1) XP_016877900.1:p.Val331=
XM_017022412.1:c.925G= (MAP2K1) XP_016877901.1:p.Val309=
XM_017022413.1:c.541G= (MAP2K1) XP_016877902.1:p.Val181=
NM_002755.4:c.1069G= (MAP2K1) MANE Select NP_002746.1:p.Val357=
NM_006049.4:c.*237C= (SNAPC5) NP_006040.1:n.*237C=
NR_138061.2:n.703C= (SNAPC5)