Canonical Allele Identifier: CA392930543

Gene: MAP2K1

Linked Data

• ClinVar Variation Id: 40740
• ClinVar RCV Id: RCV001813305 ; RCV004018722
• dbSNP Id: rs1428775799
• MyVariant Identifiers: chr15:g.66729135C>G (hg19) ; chr15:g.66436797C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66436797C>G , CM000677.2:g.66436797C>G	GRCh38
NC_000015.9:g.66729135C>G , CM000677.1:g.66729135C>G	GRCh37
NC_000015.8:g.64516189C>G	NCBI36
NG_008305.1:g.54925C>G , LRG_725:g.54925C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.277C>G	ENSP00000508681.1:p.Leu93Val
ENST00000685172.1:c.343C>G	ENSP00000509604.1:p.Leu115Val
ENST00000685763.1:c.291+1560C>G	ENSP00000509016.1:n.291+1560C>G
ENST00000686347.1:c.343C>G	ENSP00000509027.1:p.Leu115Val
ENST00000687191.1:n.779C>G
ENST00000689951.1:c.343C>G	ENSP00000509308.1:p.Leu115Val
ENST00000691077.1:c.343C>G	ENSP00000509843.1:p.Leu115Val
ENST00000691576.1:c.343C>G	ENSP00000510066.1:p.Leu115Val
ENST00000691937.1:c.343C>G	ENSP00000508768.1:p.Leu115Val
ENST00000692487.1:c.343C>G	ENSP00000509534.1:p.Leu115Val
ENST00000692683.1:c.277C>G	ENSP00000508437.1:p.Leu93Val
ENST00000693150.1:c.277C>G	ENSP00000510309.1:p.Leu93Val
ENST00000307102.10:c.343C>G MANE Select	ENSP00000302486.5:p.Leu115Val
ENST00000307102.9:c.343C>G	ENSP00000302486.4:p.Leu115Val
ENST00000425818.2:n.854C>G
NM_002755.3:c.343C>G , LRG_725t1:c.343C>G	NP_002746.1:p.Leu115Val
XM_011521783.1:c.277C>G	XP_011520085.1:p.Leu93Val
XM_011521783.3:c.277C>G	XP_011520085.1:p.Leu93Val
XM_017022411.2:c.343C>G	XP_016877900.1:p.Leu115Val
XM_017022412.1:c.277C>G	XP_016877901.1:p.Leu93Val
NM_002755.4:c.343C>G MANE Select	NP_002746.1:p.Leu115Val