Canonical Allele Identifier: CA9090840

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 2984633
• ClinVar RCV Id: RCV003845776
• dbSNP Id: rs569999283
• ExAC: 19:4099410 C / T
• gnomAD v2: 19-4099410-C-T
• gnomAD v3: 19-4099412-C-T
• gnomAD v4: 19-4099412-C-T
• MyVariant Identifiers: chr19:g.4099410C>T (hg19) ; chr19:g.4099412C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099412C>T , CM000681.2:g.4099412C>T	GRCh38
NC_000019.9:g.4099410C>T , CM000681.1:g.4099410C>T	GRCh37
NC_000019.8:g.4050410C>T	NCBI36
NG_007996.1:g.29717G>A , LRG_750:g.29717G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1147G>A
ENST00000687128.1:n.1147G>A
ENST00000688002.1:n.1002G>A
ENST00000689792.1:n.646-34G>A
ENST00000262948.10:c.708G>A MANE Select	ENSP00000262948.4:p.Pro236=
ENST00000262948.9:c.708G>A	ENSP00000262948.3:p.Pro236=
ENST00000394867.8:c.417G>A	ENSP00000378336.1:p.Pro139=
ENST00000593364.5:n.655G>A
ENST00000595715.1:n.523G>A
ENST00000597263.5:n.169+1607G>A
ENST00000599021.1:c.29+1607G>A
ENST00000600584.5:n.1268G>A
ENST00000601786.5:n.1009G>A
ENST00000602167.5:n.428G>A
NM_030662.3:c.708G>A , LRG_750t1:c.708G>A	NP_109587.1:p.Pro236=
XM_006722799.2:c.705+1607G>A	XP_006722862.1:n.705+1607G>A
XM_011528133.1:c.138G>A	XP_011526435.1:p.Pro46=
XM_017026989.1:c.708G>A	XP_016882478.1:p.Pro236=
XM_017026990.1:c.705+1607G>A	XP_016882479.1:n.705+1607G>A
NM_030662.4:c.708G>A MANE Select	NP_109587.1:p.Pro236=