Canonical Allele Identifier: CA2584878220

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4099061-ACTGCTGACCACAGTCGGCACCATCCAGGGGGACAGGTGGTGCGCCAGGGGCAGAGGGGAGGCAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099071_4099134del , CM000681.2:g.4099071_4099134del	GRCh38
NC_000019.9:g.4099069_4099132del , CM000681.1:g.4099069_4099132del	GRCh37
NC_000019.8:g.4050069_4050132del	NCBI36
NG_007996.1:g.30004_30067del , LRG_750:g.30004_30067del

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.1358+76_1358+139del
ENST00000687128.1:n.1434_1497del
ENST00000688002.1:n.1289_1352del
ENST00000689792.1:n.823+76_823+139del
ENST00000262948.10:c.919+76_919+139del MANE Select	ENSP00000262948.4:n.919+76_919+139del
ENST00000262948.9:c.919+76_919+139del	ENSP00000262948.3:n.919+76_919+139del
ENST00000394867.8:c.628+76_628+139del	ENSP00000378336.1:n.628+76_628+139del
ENST00000595715.1:n.734+76_734+139del
ENST00000597263.5:n.169+1894_169+1957del
ENST00000599021.1:c.30-1782_30-1719del
ENST00000600584.5:n.1479+76_1479+139del
ENST00000601786.5:n.1220+76_1220+139del
NM_030662.3:c.919+76_919+139del , LRG_750t1:c.919+76_919+139del	NP_109587.1:n.919+76_919+139del
XM_006722799.2:c.705+1894_705+1957del	XP_006722862.1:n.705+1894_705+1957del
XM_011528133.1:c.349+76_349+139del	XP_011526435.1:n.349+76_349+139del
XM_017026989.1:c.919+76_919+139del	XP_016882478.1:n.919+76_919+139del
XM_017026990.1:c.705+1894_705+1957del	XP_016882479.1:n.705+1894_705+1957del
NM_030662.4:c.919+76_919+139del MANE Select	NP_109587.1:n.919+76_919+139del