Canonical Allele Identifier: CA9090728

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 704380
• ClinVar RCV Id: RCV000874392 ; RCV001824901
• dbSNP Id: rs753469223
• ExAC: 19:4095451 TGGA / T
• gnomAD v2: 19-4095451-TGGA-T
• gnomAD v3: 19-4095453-TGGA-T
• gnomAD v4: 19-4095453-TGGA-T
• MyVariant Identifiers: chr19:g.4095452_4095454del (hg19) ; chr19:g.4095454_4095456del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4095458_4095460del , CM000681.2:g.4095458_4095460del	GRCh38
NC_000019.9:g.4095456_4095458del , CM000681.1:g.4095456_4095458del	GRCh37
NC_000019.8:g.4046456_4046458del	NCBI36
NG_007996.1:g.33673_33675del , LRG_750:g.33673_33675del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1424-7_1424-5del
ENST00000688002.1:n.3136-7_3136-5del
ENST00000688751.1:n.121-7_121-5del
ENST00000689792.1:n.889-7_889-5del
ENST00000262948.10:c.985-7_985-5del MANE Select	ENSP00000262948.4:n.985-7_985-5del
ENST00000262948.9:c.985-7_985-5del	ENSP00000262948.3:n.985-7_985-5del
ENST00000394867.8:c.694-7_694-5del	ENSP00000378336.1:n.694-7_694-5del
ENST00000595715.1:n.800-7_800-5del
ENST00000597263.5:n.170-7_170-5del
ENST00000599021.1:c.95-7_95-5del
ENST00000600584.5:n.1545-7_1545-5del
ENST00000601786.5:n.1286-7_1286-5del
NM_030662.3:c.985-7_985-5del , LRG_750t1:c.985-7_985-5del	NP_109587.1:n.985-7_985-5del
XM_006722799.2:c.706-7_706-5del	XP_006722862.1:n.706-7_706-5del
XM_011528133.1:c.415-7_415-5del	XP_011526435.1:n.415-7_415-5del
XM_017026989.1:c.985-7_985-5del	XP_016882478.1:n.985-7_985-5del
XM_017026990.1:c.706-7_706-5del	XP_016882479.1:n.706-7_706-5del
NM_030662.4:c.985-7_985-5del MANE Select	NP_109587.1:n.985-7_985-5del