Canonical Allele Identifier: CA354831

Gene: MAP2K1

Linked Data

• ClinVar Variation Id: 222074
• ClinVar RCV Id: RCV000207500 ; RCV002277569 ; RCV002515536
• dbSNP Id: rs869025339
• MyVariant Identifiers: chr15:g.66727459_66727461del (hg19) ; chr15:g.66435121_66435123del (hg38)
• PubMed: PMID:17551924

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66435121_66435123del , CM000677.2:g.66435121_66435123del	GRCh38
NC_000015.9:g.66727459_66727461del , CM000677.1:g.66727459_66727461del	GRCh37
NC_000015.8:g.64514513_64514515del	NCBI36
NG_008305.1:g.53249_53251del , LRG_725:g.53249_53251del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684779.1:c.109_111del	ENSP00000508681.1:p.Lys37del
ENST00000685172.1:c.175_177del	ENSP00000509604.1:p.Lys59del
ENST00000685763.1:c.175_177del	ENSP00000509016.1:p.Lys59del
ENST00000686347.1:c.175_177del	ENSP00000509027.1:p.Lys59del
ENST00000687191.1:n.611_613del
ENST00000689951.1:c.175_177del	ENSP00000509308.1:p.Lys59del
ENST00000691077.1:c.175_177del	ENSP00000509843.1:p.Lys59del
ENST00000691576.1:c.175_177del	ENSP00000510066.1:p.Lys59del
ENST00000691937.1:c.175_177del	ENSP00000508768.1:p.Lys59del
ENST00000692487.1:c.175_177del	ENSP00000509534.1:p.Lys59del
ENST00000692683.1:c.109_111del	ENSP00000508437.1:p.Lys37del
ENST00000693150.1:c.109_111del	ENSP00000510309.1:p.Lys37del
ENST00000307102.10:c.175_177del MANE Select	ENSP00000302486.5:p.Lys59del
ENST00000307102.9:c.175_177del	ENSP00000302486.4:p.Lys59del
ENST00000425818.2:n.686_688del
NM_002755.3:c.175_177del , LRG_725t1:c.175_177del	NP_002746.1:p.Lys59del
XM_011521783.1:c.109_111del	XP_011520085.1:p.Lys37del
XM_011521783.3:c.109_111del	XP_011520085.1:p.Lys37del
XM_017022411.2:c.175_177del	XP_016877900.1:p.Lys59del
XM_017022412.1:c.109_111del	XP_016877901.1:p.Lys37del
NM_002755.4:c.175_177del MANE Select	NP_002746.1:p.Lys59del