Canonical Allele Identifier: CA504987051

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4099408-G-T
• MyVariant Identifiers: chr19:g.4099406G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099408G>T , CM000681.2:g.4099408G>T	GRCh38
NC_000019.9:g.4099406G>T , CM000681.1:g.4099406G>T	GRCh37
NC_000019.8:g.4050406G>T	NCBI36
NG_007996.1:g.29721C>A , LRG_750:g.29721C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1151C>A
ENST00000687128.1:n.1151C>A
ENST00000688002.1:n.1006C>A
ENST00000689792.1:n.646-30C>A
ENST00000262948.10:c.712C>A MANE Select	ENSP00000262948.4:p.Arg238=
ENST00000262948.9:c.712C>A	ENSP00000262948.3:p.Arg238=
ENST00000394867.8:c.421C>A	ENSP00000378336.1:p.Arg141=
ENST00000593364.5:n.659C>A
ENST00000595715.1:n.527C>A
ENST00000597263.5:n.169+1611C>A
ENST00000599021.1:c.29+1611C>A
ENST00000600584.5:n.1272C>A
ENST00000601786.5:n.1013C>A
NM_030662.3:c.712C>A , LRG_750t1:c.712C>A	NP_109587.1:p.Arg238=
XM_006722799.2:c.705+1611C>A	XP_006722862.1:n.705+1611C>A
XM_011528133.1:c.142C>A	XP_011526435.1:p.Arg48=
XM_017026989.1:c.712C>A	XP_016882478.1:p.Arg238=
XM_017026990.1:c.705+1611C>A	XP_016882479.1:n.705+1611C>A
NM_030662.4:c.712C>A MANE Select	NP_109587.1:p.Arg238=