Canonical Allele Identifier: CA16042952

Gene: MAP2K1

Linked Data

• ClinVar Variation Id: 372926
• ClinVar RCV Id: RCV000413847
• dbSNP Id: rs1057518078
• MyVariant Identifiers: chr15:g.66727463_66727477del (hg19) ; chr15:g.66435125_66435139del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66435125_66435139del , CM000677.2:g.66435125_66435139del	GRCh38
NC_000015.9:g.66727463_66727477del , CM000677.1:g.66727463_66727477del	GRCh37
NC_000015.8:g.64514517_64514531del	NCBI36
NG_008305.1:g.53253_53267del , LRG_725:g.53253_53267del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684779.1:c.113_127del	ENSP00000508681.1:p.Val38_Lys42del
ENST00000685172.1:c.179_193del	ENSP00000509604.1:p.Val60_Lys64del
ENST00000685763.1:c.179_193del	ENSP00000509016.1:p.Val60_Lys64del
ENST00000686347.1:c.179_193del	ENSP00000509027.1:p.Val60_Lys64del
ENST00000687191.1:n.615_629del
ENST00000689951.1:c.179_193del	ENSP00000509308.1:p.Val60_Lys64del
ENST00000691077.1:c.179_193del	ENSP00000509843.1:p.Val60_Lys64del
ENST00000691576.1:c.179_193del	ENSP00000510066.1:p.Val60_Lys64del
ENST00000691937.1:c.179_193del	ENSP00000508768.1:p.Val60_Lys64del
ENST00000692487.1:c.179_193del	ENSP00000509534.1:p.Val60_Lys64del
ENST00000692683.1:c.113_127del	ENSP00000508437.1:p.Val38_Lys42del
ENST00000693150.1:c.113_127del	ENSP00000510309.1:p.Val38_Lys42del
ENST00000307102.10:c.179_193del MANE Select	ENSP00000302486.5:p.Val60_Lys64del
ENST00000307102.9:c.179_193del	ENSP00000302486.4:p.Val60_Lys64del
ENST00000425818.2:n.690_704del
NM_002755.3:c.179_193del , LRG_725t1:c.179_193del	NP_002746.1:p.Val60_Lys64del
XM_011521783.1:c.113_127del	XP_011520085.1:p.Val38_Lys42del
XM_011521783.3:c.113_127del	XP_011520085.1:p.Val38_Lys42del
XM_017022411.2:c.179_193del	XP_016877900.1:p.Val60_Lys64del
XM_017022412.1:c.113_127del	XP_016877901.1:p.Val38_Lys42del
NM_002755.4:c.179_193del MANE Select	NP_002746.1:p.Val60_Lys64del