Canonical Allele Identifier: CA134622
Gene: MAP2K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 40756
dbSNP Id: rs144080051

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485144C>T , CM000677.2:g.66485144C>T GRCh38
NC_000015.9:g.66777482C>T , CM000677.1:g.66777482C>T GRCh37
NC_000015.8:g.64564536C>T NCBI36
NG_008305.1:g.103272C>T , LRG_725:g.103272C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307102.10:c.848C>T MANE Select ENSP00000302486.5:p.Ala283Val
ENST00000307102.9:c.848C>T ENSP00000302486.4:p.Ala283Val
ENST00000566326.1:c.320C>T ENSP00000456438.1:p.Ala107Val
NM_002755.3:c.848C>T , LRG_725t1:c.848C>T NP_002746.1:p.Ala283Val
XM_011521783.1:c.782C>T XP_011520085.1:p.Ala261Val
XM_011521783.3:c.782C>T XP_011520085.1:p.Ala261Val
XM_017022411.2:c.770C>T XP_016877900.1:p.Ala257Val
XM_017022412.1:c.704C>T XP_016877901.1:p.Ala235Val
XM_017022413.1:c.320C>T XP_016877902.1:p.Ala107Val
NM_002755.4:c.848C>T MANE Select NP_002746.1:p.Ala283Val