Canonical Allele Identifier: CA504986994

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4099376-C-A
• COSMIC: COSM4078230 ; COSM4078231
• MyVariant Identifiers: chr19:g.4099374C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099376C>A , CM000681.2:g.4099376C>A	GRCh38
NC_000019.9:g.4099374C>A , CM000681.1:g.4099374C>A	GRCh37
NC_000019.8:g.4050374C>A	NCBI36
NG_007996.1:g.29753G>T , LRG_750:g.29753G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1183G>T
ENST00000687128.1:n.1183G>T
ENST00000688002.1:n.1038G>T
ENST00000689792.1:n.648G>T
ENST00000262948.10:c.744G>T MANE Select	ENSP00000262948.4:p.Ser248=
ENST00000262948.9:c.744G>T	ENSP00000262948.3:p.Ser248=
ENST00000394867.8:c.453G>T	ENSP00000378336.1:p.Ser151=
ENST00000593364.5:n.691G>T
ENST00000595715.1:n.559G>T
ENST00000597263.5:n.169+1643G>T
ENST00000599021.1:c.29+1643G>T
ENST00000600584.5:n.1304G>T
ENST00000601786.5:n.1045G>T
NM_030662.3:c.744G>T , LRG_750t1:c.744G>T	NP_109587.1:p.Ser248=
XM_006722799.2:c.705+1643G>T	XP_006722862.1:n.705+1643G>T
XM_011528133.1:c.174G>T	XP_011526435.1:p.Ser58=
XM_017026989.1:c.744G>T	XP_016882478.1:p.Ser248=
XM_017026990.1:c.705+1643G>T	XP_016882479.1:n.705+1643G>T
NM_030662.4:c.744G>T MANE Select	NP_109587.1:p.Ser248=