Canonical Allele Identifier: CA631539197

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 1587320
• ClinVar RCV Id: RCV002103194
• dbSNP Id: rs1255196775
• gnomAD v2: 19-4099425-CAG-C
• MyVariant Identifiers: chr19:g.4099426_4099427del (hg19) ; chr19:g.4099428_4099429del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099428_4099429del , CM000681.2:g.4099428_4099429del	GRCh38
NC_000019.9:g.4099426_4099427del , CM000681.1:g.4099426_4099427del	GRCh37
NC_000019.8:g.4050426_4050427del	NCBI36
NG_007996.1:g.29700_29701del , LRG_750:g.29700_29701del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1145-15_1145-14del
ENST00000687128.1:n.1145-15_1145-14del
ENST00000688002.1:n.985_986del
ENST00000689792.1:n.646-51_646-50del
ENST00000262948.10:c.706-15_706-14del MANE Select	ENSP00000262948.4:n.706-15_706-14del
ENST00000262948.9:c.706-15_706-14del	ENSP00000262948.3:n.706-15_706-14del
ENST00000394867.8:c.415-15_415-14del	ENSP00000378336.1:n.415-15_415-14del
ENST00000593364.5:n.653-15_653-14del
ENST00000595715.1:n.506_507del
ENST00000597263.5:n.169+1590_169+1591del
ENST00000599021.1:c.29+1590_29+1591del
ENST00000600584.5:n.1251_1252del
ENST00000601786.5:n.1007-15_1007-14del
ENST00000602167.5:n.426-15_426-14del
NM_030662.3:c.706-15_706-14del , LRG_750t1:c.706-15_706-14del	NP_109587.1:n.706-15_706-14del
XM_006722799.2:c.705+1590_705+1591del	XP_006722862.1:n.705+1590_705+1591del
XM_011528133.1:c.136-15_136-14del	XP_011526435.1:n.136-15_136-14del
XM_017026989.1:c.706-15_706-14del	XP_016882478.1:n.706-15_706-14del
XM_017026990.1:c.705+1590_705+1591del	XP_016882479.1:n.705+1590_705+1591del
NM_030662.4:c.706-15_706-14del MANE Select	NP_109587.1:n.706-15_706-14del