Canonical Allele Identifier: CA992821464

Gene: MAP2K2

Linked Data

• dbSNP Id: rs2040971472
• gnomAD v3: 19-4099545-T-C
• gnomAD v4: 19-4099545-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099545T>C , CM000681.2:g.4099545T>C	GRCh38
NC_000019.9:g.4099543T>C , CM000681.1:g.4099543T>C	GRCh37
NC_000019.8:g.4050543T>C	NCBI36
NG_007996.1:g.29584A>G , LRG_750:g.29584A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1145-131A>G
ENST00000687128.1:n.1145-131A>G
ENST00000688002.1:n.869A>G
ENST00000689792.1:n.646-167A>G
ENST00000262948.10:c.706-131A>G MANE Select	ENSP00000262948.4:n.706-131A>G
ENST00000262948.9:c.706-131A>G	ENSP00000262948.3:n.706-131A>G
ENST00000394867.8:c.415-131A>G	ENSP00000378336.1:n.415-131A>G
ENST00000593364.5:n.653-131A>G
ENST00000595715.1:n.390A>G
ENST00000597263.5:n.169+1474A>G
ENST00000599021.1:c.29+1474A>G
ENST00000600584.5:n.1135A>G
ENST00000601786.5:n.1007-131A>G
ENST00000602167.5:n.426-131A>G
NM_030662.3:c.706-131A>G , LRG_750t1:c.706-131A>G	NP_109587.1:n.706-131A>G
XM_006722799.2:c.705+1474A>G	XP_006722862.1:n.705+1474A>G
XM_011528133.1:c.136-131A>G	XP_011526435.1:n.136-131A>G
XM_017026989.1:c.706-131A>G	XP_016882478.1:n.706-131A>G
XM_017026990.1:c.705+1474A>G	XP_016882479.1:n.705+1474A>G
XM_017026991.1:c.*185A>G	XP_016882480.1:n.*185A>G
NM_030662.4:c.706-131A>G MANE Select	NP_109587.1:n.706-131A>G