Canonical Allele Identifier: CA10576999
Gene: MAP2K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 228273
ClinVar RCV Id: RCV000220187 RCV000763361 RCV000844674 RCV001312196
dbSNP Id: rs876657651
MyVariant Identifiers: chr15:g.66729156A>G (hg19) chr15:g.66436818A>G (hg38)
ERepo: CA10576999/MONDO:0021060/004
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66436818A>G , CM000677.2:g.66436818A>G GRCh38
NC_000015.9:g.66729156A>G , CM000677.1:g.66729156A>G GRCh37
NC_000015.8:g.64516210A>G NCBI36
NG_008305.1:g.54946A>G , LRG_725:g.54946A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.298A>G ENSP00000508681.1:p.Asn100Asp
ENST00000685172.1:c.364A>G ENSP00000509604.1:p.Asn122Asp
ENST00000685763.1:c.291+1581A>G ENSP00000509016.1:n.291+1581A>G
ENST00000686347.1:c.364A>G ENSP00000509027.1:p.Asn122Asp
ENST00000687191.1:n.800A>G
ENST00000689951.1:c.364A>G ENSP00000509308.1:p.Asn122Asp
ENST00000691077.1:c.364A>G ENSP00000509843.1:p.Asn122Asp
ENST00000691576.1:c.364A>G ENSP00000510066.1:p.Asn122Asp
ENST00000691937.1:c.364A>G ENSP00000508768.1:p.Asn122Asp
ENST00000692487.1:c.364A>G ENSP00000509534.1:p.Asn122Asp
ENST00000692683.1:c.298A>G ENSP00000508437.1:p.Asn100Asp
ENST00000693150.1:c.298A>G ENSP00000510309.1:p.Asn100Asp
ENST00000307102.10:c.364A>G MANE Select ENSP00000302486.5:p.Asn122Asp
ENST00000307102.9:c.364A>G ENSP00000302486.4:p.Asn122Asp
ENST00000425818.2:n.875A>G
NM_002755.3:c.364A>G , LRG_725t1:c.364A>G NP_002746.1:p.Asn122Asp
XM_011521783.1:c.298A>G XP_011520085.1:p.Asn100Asp
XM_011521783.3:c.298A>G XP_011520085.1:p.Asn100Asp
XM_017022411.2:c.364A>G XP_016877900.1:p.Asn122Asp
XM_017022412.1:c.298A>G XP_016877901.1:p.Asn100Asp
NM_002755.4:c.364A>G MANE Select NP_002746.1:p.Asn122Asp
Search 100 bp 5'
Search 100 bp 3'