Canonical Allele Identifier: CA9090684

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 2054532
• ClinVar RCV Id: RCV002909807
• dbSNP Id: rs370956574
• ExAC: 19:4090611 C / T
• gnomAD v2: 19-4090611-C-T
• gnomAD v3: 19-4090613-C-T
• gnomAD v4: 19-4090613-C-T
• MyVariant Identifiers: chr19:g.4090611C>T (hg19) ; chr19:g.4090613C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090613C>T , CM000681.2:g.4090613C>T	GRCh38
NC_000019.9:g.4090611C>T , CM000681.1:g.4090611C>T	GRCh37
NC_000019.8:g.4041611C>T	NCBI36
NG_007996.1:g.38516G>A , LRG_750:g.38516G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1627G>A
ENST00000688002.1:n.3339G>A
ENST00000688751.1:n.324G>A
ENST00000689792.1:n.1092G>A
ENST00000262948.10:c.1188G>A MANE Select	ENSP00000262948.4:p.Thr396=
ENST00000262948.9:c.1188G>A	ENSP00000262948.3:p.Thr396=
ENST00000394867.8:c.897G>A	ENSP00000378336.1:p.Thr299=
ENST00000597263.5:n.373G>A
ENST00000599021.1:c.298G>A
ENST00000600584.5:n.2637G>A
ENST00000601786.5:n.1489G>A
NM_030662.3:c.1188G>A , LRG_750t1:c.1188G>A	NP_109587.1:p.Thr396=
XM_006722799.2:c.909G>A	XP_006722862.1:p.Thr303=
XM_011528133.1:c.618G>A	XP_011526435.1:p.Thr206=
NM_030662.4:c.1188G>A MANE Select	NP_109587.1:p.Thr396=