Canonical Allele Identifier: CA16602648
Gene: MAP2K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 376193
ClinVar RCV Id: RCV000429680
dbSNP Id: rs730880502

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66436762T>A , CM000677.2:g.66436762T>A GRCh38
NC_000015.9:g.66729100T>A , CM000677.1:g.66729100T>A GRCh37
NC_000015.8:g.64516154T>A NCBI36
NG_008305.1:g.54890T>A , LRG_725:g.54890T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.242T>A ENSP00000508681.1:p.Ile81Asn
ENST00000685172.1:c.308T>A ENSP00000509604.1:p.Ile103Asn
ENST00000685763.1:c.291+1525T>A ENSP00000509016.1:n.291+1525T>A
ENST00000686347.1:c.308T>A ENSP00000509027.1:p.Ile103Asn
ENST00000687191.1:n.744T>A
ENST00000689951.1:c.308T>A ENSP00000509308.1:p.Ile103Asn
ENST00000691077.1:c.308T>A ENSP00000509843.1:p.Ile103Asn
ENST00000691576.1:c.308T>A ENSP00000510066.1:p.Ile103Asn
ENST00000691937.1:c.308T>A ENSP00000508768.1:p.Ile103Asn
ENST00000692487.1:c.308T>A ENSP00000509534.1:p.Ile103Asn
ENST00000692683.1:c.242T>A ENSP00000508437.1:p.Ile81Asn
ENST00000693150.1:c.242T>A ENSP00000510309.1:p.Ile81Asn
ENST00000307102.10:c.308T>A MANE Select ENSP00000302486.5:p.Ile103Asn
ENST00000307102.9:c.308T>A ENSP00000302486.4:p.Ile103Asn
ENST00000425818.2:n.819T>A
NM_002755.3:c.308T>A , LRG_725t1:c.308T>A NP_002746.1:p.Ile103Asn
XM_011521783.1:c.242T>A XP_011520085.1:p.Ile81Asn
XM_011521783.3:c.242T>A XP_011520085.1:p.Ile81Asn
XM_017022411.2:c.308T>A XP_016877900.1:p.Ile103Asn
XM_017022412.1:c.242T>A XP_016877901.1:p.Ile81Asn
NM_002755.4:c.308T>A MANE Select NP_002746.1:p.Ile103Asn