Canonical Allele Identifier: CA2584878285

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4099123-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099123C>A , CM000681.2:g.4099123C>A	GRCh38
NC_000019.9:g.4099121C>A , CM000681.1:g.4099121C>A	GRCh37
NC_000019.8:g.4050121C>A	NCBI36
NG_007996.1:g.30006G>T , LRG_750:g.30006G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.1358+78G>T
ENST00000687128.1:n.1436G>T
ENST00000688002.1:n.1291G>T
ENST00000689792.1:n.823+78G>T
ENST00000262948.10:c.919+78G>T MANE Select	ENSP00000262948.4:n.919+78G>T
ENST00000262948.9:c.919+78G>T	ENSP00000262948.3:n.919+78G>T
ENST00000394867.8:c.628+78G>T	ENSP00000378336.1:n.628+78G>T
ENST00000595715.1:n.734+78G>T
ENST00000597263.5:n.169+1896G>T
ENST00000599021.1:c.30-1780G>T
ENST00000600584.5:n.1479+78G>T
ENST00000601786.5:n.1220+78G>T
NM_030662.3:c.919+78G>T , LRG_750t1:c.919+78G>T	NP_109587.1:n.919+78G>T
XM_006722799.2:c.705+1896G>T	XP_006722862.1:n.705+1896G>T
XM_011528133.1:c.349+78G>T	XP_011526435.1:n.349+78G>T
XM_017026989.1:c.919+78G>T	XP_016882478.1:n.919+78G>T
XM_017026990.1:c.705+1896G>T	XP_016882479.1:n.705+1896G>T
NM_030662.4:c.919+78G>T MANE Select	NP_109587.1:n.919+78G>T