Canonical Allele Identifier: CA16602649

Gene: MAP2K1

Linked Data

• ClinVar Variation Id: 376194
• ClinVar RCV Id: RCV000440339 ; RCV001237931
• dbSNP Id: rs1057519730
• MyVariant Identifiers: chr15:g.66729124T>A (hg19) ; chr15:g.66436786T>A (hg38)
• PubMed: PMID:19915144

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66436786T>A , CM000677.2:g.66436786T>A	GRCh38
NC_000015.9:g.66729124T>A , CM000677.1:g.66729124T>A	GRCh37
NC_000015.8:g.64516178T>A	NCBI36
NG_008305.1:g.54914T>A , LRG_725:g.54914T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.266T>A	ENSP00000508681.1:p.Ile89Asn
ENST00000685172.1:c.332T>A	ENSP00000509604.1:p.Ile111Asn
ENST00000685763.1:c.291+1549T>A	ENSP00000509016.1:n.291+1549T>A
ENST00000686347.1:c.332T>A	ENSP00000509027.1:p.Ile111Asn
ENST00000687191.1:n.768T>A
ENST00000689951.1:c.332T>A	ENSP00000509308.1:p.Ile111Asn
ENST00000691077.1:c.332T>A	ENSP00000509843.1:p.Ile111Asn
ENST00000691576.1:c.332T>A	ENSP00000510066.1:p.Ile111Asn
ENST00000691937.1:c.332T>A	ENSP00000508768.1:p.Ile111Asn
ENST00000692487.1:c.332T>A	ENSP00000509534.1:p.Ile111Asn
ENST00000692683.1:c.266T>A	ENSP00000508437.1:p.Ile89Asn
ENST00000693150.1:c.266T>A	ENSP00000510309.1:p.Ile89Asn
ENST00000307102.10:c.332T>A MANE Select	ENSP00000302486.5:p.Ile111Asn
ENST00000307102.9:c.332T>A	ENSP00000302486.4:p.Ile111Asn
ENST00000425818.2:n.843T>A
NM_002755.3:c.332T>A , LRG_725t1:c.332T>A	NP_002746.1:p.Ile111Asn
XM_011521783.1:c.266T>A	XP_011520085.1:p.Ile89Asn
XM_011521783.3:c.266T>A	XP_011520085.1:p.Ile89Asn
XM_017022411.2:c.332T>A	XP_016877900.1:p.Ile111Asn
XM_017022412.1:c.266T>A	XP_016877901.1:p.Ile89Asn
NM_002755.4:c.332T>A MANE Select	NP_002746.1:p.Ile111Asn