Canonical Allele Identifier: CA392936435
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140668124

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66481847A>C , CM000677.2:g.66481847A>C GRCh38
NC_000015.9:g.66774185A>C , CM000677.1:g.66774185A>C GRCh37
NC_000015.8:g.64561239A>C NCBI36
NG_008305.1:g.99975A>C , LRG_725:g.99975A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.595A>C ENSP00000508681.1:p.Asn199His
ENST00000685172.1:c.661A>C ENSP00000509604.1:p.Asn221His
ENST00000685763.1:c.514A>C ENSP00000509016.1:p.Asn172His
ENST00000686347.1:c.569-5381A>C ENSP00000509027.1:n.569-5381A>C
ENST00000687191.1:n.1019A>C
ENST00000689951.1:c.712A>C ENSP00000509308.1:p.Asn238His
ENST00000691077.1:c.661A>C ENSP00000509843.1:p.Asn221His
ENST00000691576.1:c.569-3147A>C ENSP00000510066.1:n.569-3147A>C
ENST00000691937.1:c.661A>C ENSP00000508768.1:p.Asn221His
ENST00000692487.1:c.661A>C ENSP00000509534.1:p.Asn221His
ENST00000692683.1:c.595A>C ENSP00000508437.1:p.Asn199His
ENST00000693150.1:c.517A>C ENSP00000510309.1:p.Asn173His
ENST00000307102.10:c.661A>C MANE Select ENSP00000302486.5:p.Asn221His
ENST00000307102.9:c.661A>C ENSP00000302486.4:p.Asn221His
ENST00000566326.1:c.133A>C ENSP00000456438.1:p.Asn45His
NM_002755.3:c.661A>C , LRG_725t1:c.661A>C NP_002746.1:p.Asn221His
XM_011521783.1:c.595A>C XP_011520085.1:p.Asn199His
XM_011521783.3:c.595A>C XP_011520085.1:p.Asn199His
XM_017022411.2:c.583A>C XP_016877900.1:p.Asn195His
XM_017022412.1:c.517A>C XP_016877901.1:p.Asn173His
XM_017022413.1:c.133A>C XP_016877902.1:p.Asn45His
NM_002755.4:c.661A>C MANE Select NP_002746.1:p.Asn221His