Canonical Allele Identifier: CA134601

Gene: MAP2K1

Linked Data

• ClinVar Variation Id: 44588
• ClinVar RCV Id: RCV000158005 ; RCV000522848 ; RCV001813322
• dbSNP Id: rs397516791
• MyVariant Identifiers: chr15:g.66727559T>G (hg19) ; chr15:g.66435221T>G (hg38)
• ERepo: CA134601/MONDO:0015280/004 ; CA134601/MONDO:0021060/045

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66435221T>G , CM000677.2:g.66435221T>G	GRCh38
NC_000015.9:g.66727559T>G , CM000677.1:g.66727559T>G	GRCh37
NC_000015.8:g.64514613T>G	NCBI36
NG_008305.1:g.53349T>G , LRG_725:g.53349T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.209T>G	ENSP00000508681.1:p.Leu70Arg
ENST00000685172.1:c.275T>G	ENSP00000509604.1:p.Leu92Arg
ENST00000685763.1:c.275T>G	ENSP00000509016.1:p.Leu92Arg
ENST00000686347.1:c.275T>G	ENSP00000509027.1:p.Leu92Arg
ENST00000687191.1:n.711T>G
ENST00000689951.1:c.275T>G	ENSP00000509308.1:p.Leu92Arg
ENST00000691077.1:c.275T>G	ENSP00000509843.1:p.Leu92Arg
ENST00000691576.1:c.275T>G	ENSP00000510066.1:p.Leu92Arg
ENST00000691937.1:c.275T>G	ENSP00000508768.1:p.Leu92Arg
ENST00000692487.1:c.275T>G	ENSP00000509534.1:p.Leu92Arg
ENST00000692683.1:c.209T>G	ENSP00000508437.1:p.Leu70Arg
ENST00000693150.1:c.209T>G	ENSP00000510309.1:p.Leu70Arg
ENST00000307102.10:c.275T>G MANE Select	ENSP00000302486.5:p.Leu92Arg
ENST00000307102.9:c.275T>G	ENSP00000302486.4:p.Leu92Arg
ENST00000425818.2:n.786T>G
NM_002755.3:c.275T>G , LRG_725t1:c.275T>G	NP_002746.1:p.Leu92Arg
XM_011521783.1:c.209T>G	XP_011520085.1:p.Leu70Arg
XM_011521783.3:c.209T>G	XP_011520085.1:p.Leu70Arg
XM_017022411.2:c.275T>G	XP_016877900.1:p.Leu92Arg
XM_017022412.1:c.209T>G	XP_016877901.1:p.Leu70Arg
NM_002755.4:c.275T>G MANE Select	NP_002746.1:p.Leu92Arg