Canonical Allele Identifier: CA992819061

Gene: MAP2K2

Linked Data

• dbSNP Id: rs2040888903
• gnomAD v3: 19-4094606-G-A
• gnomAD v4: 19-4094606-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4094606G>A , CM000681.2:g.4094606G>A	GRCh38
NC_000019.9:g.4094604G>A , CM000681.1:g.4094604G>A	GRCh37
NC_000019.8:g.4045604G>A	NCBI36
NG_007996.1:g.34523C>T , LRG_750:g.34523C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1486-108C>T
ENST00000688002.1:n.3198-108C>T
ENST00000688751.1:n.183-108C>T
ENST00000689792.1:n.951-108C>T
ENST00000262948.10:c.1047-108C>T MANE Select	ENSP00000262948.4:n.1047-108C>T
ENST00000262948.9:c.1047-108C>T	ENSP00000262948.3:n.1047-108C>T
ENST00000394867.8:c.756-108C>T	ENSP00000378336.1:n.756-108C>T
ENST00000597263.5:n.232-108C>T
ENST00000599021.1:c.157-108C>T
ENST00000600584.5:n.2388C>T
ENST00000601786.5:n.1348-108C>T
NM_030662.3:c.1047-108C>T , LRG_750t1:c.1047-108C>T	NP_109587.1:n.1047-108C>T
XM_006722799.2:c.768-108C>T	XP_006722862.1:n.768-108C>T
XM_011528133.1:c.477-108C>T	XP_011526435.1:n.477-108C>T
XM_017026989.1:c.1487C>T	XP_016882478.1:p.Pro496Leu
XM_017026990.1:c.1208C>T	XP_016882479.1:p.Pro403Leu
NM_030662.4:c.1047-108C>T MANE Select	NP_109587.1:n.1047-108C>T