Canonical Allele Identifier: CA2576573191

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4094564-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4094564G>T , CM000681.2:g.4094564G>T	GRCh38
NC_000019.9:g.4094562G>T , CM000681.1:g.4094562G>T	GRCh37
NC_000019.8:g.4045562G>T	NCBI36
NG_007996.1:g.34565C>A , LRG_750:g.34565C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1486-66C>A
ENST00000688002.1:n.3198-66C>A
ENST00000688751.1:n.183-66C>A
ENST00000689792.1:n.951-66C>A
ENST00000262948.10:c.1047-66C>A MANE Select	ENSP00000262948.4:n.1047-66C>A
ENST00000262948.9:c.1047-66C>A	ENSP00000262948.3:n.1047-66C>A
ENST00000394867.8:c.756-66C>A	ENSP00000378336.1:n.756-66C>A
ENST00000597263.5:n.232-66C>A
ENST00000599021.1:c.157-66C>A
ENST00000600584.5:n.2430C>A
ENST00000601786.5:n.1348-66C>A
NM_030662.3:c.1047-66C>A , LRG_750t1:c.1047-66C>A	NP_109587.1:n.1047-66C>A
XM_006722799.2:c.768-66C>A	XP_006722862.1:n.768-66C>A
XM_011528133.1:c.477-66C>A	XP_011526435.1:n.477-66C>A
XM_017026989.1:c.1529C>A	XP_016882478.1:p.Ala510Asp
XM_017026990.1:c.1250C>A	XP_016882479.1:p.Ala417Asp
NM_030662.4:c.1047-66C>A MANE Select	NP_109587.1:n.1047-66C>A