Canonical Allele Identifier: CA992821421

Gene: MAP2K2

Linked Data

• dbSNP Id: rs2040970543
• gnomAD v3: 19-4099500-C-T
• gnomAD v4: 19-4099500-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099500C>T , CM000681.2:g.4099500C>T	GRCh38
NC_000019.9:g.4099498C>T , CM000681.1:g.4099498C>T	GRCh37
NC_000019.8:g.4050498C>T	NCBI36
NG_007996.1:g.29629G>A , LRG_750:g.29629G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1145-86G>A
ENST00000687128.1:n.1145-86G>A
ENST00000688002.1:n.914G>A
ENST00000689792.1:n.646-122G>A
ENST00000262948.10:c.706-86G>A MANE Select	ENSP00000262948.4:n.706-86G>A
ENST00000262948.9:c.706-86G>A	ENSP00000262948.3:n.706-86G>A
ENST00000394867.8:c.415-86G>A	ENSP00000378336.1:n.415-86G>A
ENST00000593364.5:n.653-86G>A
ENST00000595715.1:n.435G>A
ENST00000597263.5:n.169+1519G>A
ENST00000599021.1:c.29+1519G>A
ENST00000600584.5:n.1180G>A
ENST00000601786.5:n.1007-86G>A
ENST00000602167.5:n.426-86G>A
NM_030662.3:c.706-86G>A , LRG_750t1:c.706-86G>A	NP_109587.1:n.706-86G>A
XM_006722799.2:c.705+1519G>A	XP_006722862.1:n.705+1519G>A
XM_011528133.1:c.136-86G>A	XP_011526435.1:n.136-86G>A
XM_017026989.1:c.706-86G>A	XP_016882478.1:n.706-86G>A
XM_017026990.1:c.705+1519G>A	XP_016882479.1:n.705+1519G>A
XM_017026991.1:c.*230G>A	XP_016882480.1:n.*230G>A
NM_030662.4:c.706-86G>A MANE Select	NP_109587.1:n.706-86G>A