Canonical Allele Identifier: CA304456681

Gene: MAP2K2

Linked Data

• dbSNP Id: rs751442889
• gnomAD v2: 19-4117636-AC-A
• gnomAD v3: 19-4117638-AC-A
• gnomAD v4: 19-4117638-AC-A
• COSMIC: COSM5364692 ; COSM5364693
• MyVariant Identifiers: chr19:g.4117637del (hg19) ; chr19:g.4117639del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4117644del , CM000681.2:g.4117644del	GRCh38
NC_000019.9:g.4117642del , CM000681.1:g.4117642del	GRCh37
NC_000019.8:g.4068642del	NCBI36
NG_007996.1:g.11490del , LRG_750:g.11490del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.522del
ENST00000687128.1:n.522del
ENST00000262948.10:c.93-10del MANE Select	ENSP00000262948.4:n.93-10del
ENST00000262948.9:c.93-10del	ENSP00000262948.3:n.93-10del
ENST00000394867.8:c.-199-10del	ENSP00000378336.1:n.-199-10del
ENST00000599345.1:n.290-10del
NM_030662.3:c.93-10del , LRG_750t1:c.93-10del	NP_109587.1:n.93-10del
XM_006722799.2:c.93-10del	XP_006722862.1:n.93-10del
XM_017026989.1:c.93-10del	XP_016882478.1:n.93-10del
XM_017026990.1:c.93-10del	XP_016882479.1:n.93-10del
XM_017026991.1:c.93-10del	XP_016882480.1:n.93-10del
NM_030662.4:c.93-10del MANE Select	NP_109587.1:n.93-10del