Canonical Allele Identifier: CA2573151054

Gene: MAP2K1

Linked Data

• ClinVar Variation Id: 1429014
• ClinVar RCV Id: RCV001949997
• dbSNP Id: rs2140578690

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66435076_66435108del , CM000677.2:g.66435076_66435108del	GRCh38
NC_000015.9:g.66727414_66727446del , CM000677.1:g.66727414_66727446del	GRCh37
NC_000015.8:g.64514468_64514500del	NCBI36
NG_008305.1:g.53204_53236del , LRG_725:g.53204_53236del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684779.1:c.64_96del	ENSP00000508681.1:p.Glu22_Leu32del
ENST00000685172.1:c.130_162del	ENSP00000509604.1:p.Glu44_Leu54del
ENST00000685763.1:c.130_162del	ENSP00000509016.1:p.Glu44_Leu54del
ENST00000686347.1:c.130_162del	ENSP00000509027.1:p.Glu44_Leu54del
ENST00000687191.1:n.566_598del
ENST00000689951.1:c.130_162del	ENSP00000509308.1:p.Glu44_Leu54del
ENST00000691077.1:c.130_162del	ENSP00000509843.1:p.Glu44_Leu54del
ENST00000691576.1:c.130_162del	ENSP00000510066.1:p.Glu44_Leu54del
ENST00000691937.1:c.130_162del	ENSP00000508768.1:p.Glu44_Leu54del
ENST00000692487.1:c.130_162del	ENSP00000509534.1:p.Glu44_Leu54del
ENST00000692683.1:c.64_96del	ENSP00000508437.1:p.Glu22_Leu32del
ENST00000693150.1:c.64_96del	ENSP00000510309.1:p.Glu22_Leu32del
ENST00000307102.10:c.130_162del MANE Select	ENSP00000302486.5:p.Glu44_Leu54del
ENST00000307102.9:c.130_162del	ENSP00000302486.4:p.Glu44_Leu54del
ENST00000425818.2:n.641_673del
NM_002755.3:c.130_162del , LRG_725t1:c.130_162del	NP_002746.1:p.Glu44_Leu54del
XM_011521783.1:c.64_96del	XP_011520085.1:p.Glu22_Leu32del
XM_011521783.3:c.64_96del	XP_011520085.1:p.Glu22_Leu32del
XM_017022411.2:c.130_162del	XP_016877900.1:p.Glu44_Leu54del
XM_017022412.1:c.64_96del	XP_016877901.1:p.Glu22_Leu32del
NM_002755.4:c.130_162del MANE Select	NP_002746.1:p.Glu44_Leu54del