Canonical Allele Identifier: CA137966

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 46242
• ClinVar RCV Id: RCV000039493 ; RCV000519690
• dbSNP Id: rs138873805
• ExAC: 19:4099334 C / T
• gnomAD v2: 19-4099334-C-T
• gnomAD v3: 19-4099336-C-T
• gnomAD v4: 19-4099336-C-T
• MyVariant Identifiers: chr19:g.4099334C>T (hg19) ; chr19:g.4099336C>T (hg38)
• ERepo: CA137966/MONDO:0021060/004 ; CA137966/MONDO:0021060/048

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099336C>T , CM000681.2:g.4099336C>T	GRCh38
NC_000019.9:g.4099334C>T , CM000681.1:g.4099334C>T	GRCh37
NC_000019.8:g.4050334C>T	NCBI36
NG_007996.1:g.29793G>A , LRG_750:g.29793G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1223G>A
ENST00000687128.1:n.1223G>A
ENST00000688002.1:n.1078G>A
ENST00000689792.1:n.688G>A
ENST00000262948.10:c.784G>A MANE Select	ENSP00000262948.4:p.Val262Ile
ENST00000262948.9:c.784G>A	ENSP00000262948.3:p.Val262Ile
ENST00000394867.8:c.493G>A	ENSP00000378336.1:p.Val165Ile
ENST00000593364.5:n.731G>A
ENST00000595715.1:n.599G>A
ENST00000597263.5:n.169+1683G>A
ENST00000599021.1:c.29+1683G>A
ENST00000600584.5:n.1344G>A
ENST00000601786.5:n.1085G>A
NM_030662.3:c.784G>A , LRG_750t1:c.784G>A	NP_109587.1:p.Val262Ile
XM_006722799.2:c.705+1683G>A	XP_006722862.1:n.705+1683G>A
XM_011528133.1:c.214G>A	XP_011526435.1:p.Val72Ile
XM_017026989.1:c.784G>A	XP_016882478.1:p.Val262Ile
XM_017026990.1:c.705+1683G>A	XP_016882479.1:n.705+1683G>A
NM_030662.4:c.784G>A MANE Select	NP_109587.1:p.Val262Ile