Canonical Allele Identifier: CA882241819

Gene: MAP2K2

Linked Data

• dbSNP Id: rs1326549847
• gnomAD v3: 19-4094336-A-T
• gnomAD v4: 19-4094336-A-T
• MyVariant Identifiers: chr19:g.4094334A>T (hg19) ; chr19:g.4094336A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4094336A>T , CM000681.2:g.4094336A>T	GRCh38
NC_000019.9:g.4094334A>T , CM000681.1:g.4094334A>T	GRCh37
NC_000019.8:g.4045334A>T	NCBI36
NG_007996.1:g.34793T>A , LRG_750:g.34793T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1531+117T>A
ENST00000688002.1:n.3243+117T>A
ENST00000688751.1:n.228+117T>A
ENST00000689792.1:n.996+117T>A
ENST00000262948.10:c.1092+117T>A MANE Select	ENSP00000262948.4:n.1092+117T>A
ENST00000262948.9:c.1092+117T>A	ENSP00000262948.3:n.1092+117T>A
ENST00000394867.8:c.801+117T>A	ENSP00000378336.1:n.801+117T>A
ENST00000597263.5:n.277+117T>A
ENST00000599021.1:c.202+117T>A
ENST00000600584.5:n.2541+117T>A
ENST00000601786.5:n.1393+117T>A
NM_030662.3:c.1092+117T>A , LRG_750t1:c.1092+117T>A	NP_109587.1:n.1092+117T>A
XM_006722799.2:c.813+117T>A	XP_006722862.1:n.813+117T>A
XM_011528133.1:c.522+117T>A	XP_011526435.1:n.522+117T>A
NM_030662.4:c.1092+117T>A MANE Select	NP_109587.1:n.1092+117T>A