Canonical Allele Identifier: CA504987045

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4099400-C-T
• MyVariant Identifiers: chr19:g.4099398C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099400C>T , CM000681.2:g.4099400C>T	GRCh38
NC_000019.9:g.4099398C>T , CM000681.1:g.4099398C>T	GRCh37
NC_000019.8:g.4050398C>T	NCBI36
NG_007996.1:g.29729G>A , LRG_750:g.29729G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1159G>A
ENST00000687128.1:n.1159G>A
ENST00000688002.1:n.1014G>A
ENST00000689792.1:n.646-22G>A
ENST00000262948.10:c.720G>A MANE Select	ENSP00000262948.4:p.Gln240=
ENST00000262948.9:c.720G>A	ENSP00000262948.3:p.Gln240=
ENST00000394867.8:c.429G>A	ENSP00000378336.1:p.Gln143=
ENST00000593364.5:n.667G>A
ENST00000595715.1:n.535G>A
ENST00000597263.5:n.169+1619G>A
ENST00000599021.1:c.29+1619G>A
ENST00000600584.5:n.1280G>A
ENST00000601786.5:n.1021G>A
NM_030662.3:c.720G>A , LRG_750t1:c.720G>A	NP_109587.1:p.Gln240=
XM_006722799.2:c.705+1619G>A	XP_006722862.1:n.705+1619G>A
XM_011528133.1:c.150G>A	XP_011526435.1:p.Gln50=
XM_017026989.1:c.720G>A	XP_016882478.1:p.Gln240=
XM_017026990.1:c.705+1619G>A	XP_016882479.1:n.705+1619G>A
NM_030662.4:c.720G>A MANE Select	NP_109587.1:p.Gln240=