Canonical Allele Identifier: CA992818913

Gene: MAP2K2

Linked Data

• dbSNP Id: rs2040882884
• gnomAD v3: 19-4094248-C-A
• gnomAD v4: 19-4094248-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4094248C>A , CM000681.2:g.4094248C>A	GRCh38
NC_000019.9:g.4094246C>A , CM000681.1:g.4094246C>A	GRCh37
NC_000019.8:g.4045246C>A	NCBI36
NG_007996.1:g.34881G>T , LRG_750:g.34881G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1531+205G>T
ENST00000688002.1:n.3243+205G>T
ENST00000688751.1:n.228+205G>T
ENST00000689792.1:n.996+205G>T
ENST00000262948.10:c.1092+205G>T MANE Select	ENSP00000262948.4:n.1092+205G>T
ENST00000262948.9:c.1092+205G>T	ENSP00000262948.3:n.1092+205G>T
ENST00000394867.8:c.801+205G>T	ENSP00000378336.1:n.801+205G>T
ENST00000597263.5:n.277+205G>T
ENST00000599021.1:c.202+205G>T
ENST00000600584.5:n.2541+205G>T
ENST00000601786.5:n.1393+205G>T
NM_030662.3:c.1092+205G>T , LRG_750t1:c.1092+205G>T	NP_109587.1:n.1092+205G>T
XM_006722799.2:c.813+205G>T	XP_006722862.1:n.813+205G>T
XM_011528133.1:c.522+205G>T	XP_011526435.1:n.522+205G>T
NM_030662.4:c.1092+205G>T MANE Select	NP_109587.1:n.1092+205G>T