Canonical Allele Identifier: CA9090680

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 40847
• ClinVar RCV Id: RCV000781516 ; RCV000866602 ; RCV001610309 ; RCV001813319
• dbSNP Id: rs533247725
• ExAC: 19:4090601 C / T
• gnomAD v2: 19-4090601-C-T
• gnomAD v3: 19-4090603-C-T
• gnomAD v4: 19-4090603-C-T
• MyVariant Identifiers: chr19:g.4090601C>T (hg19) ; chr19:g.4090603C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090603C>T , CM000681.2:g.4090603C>T	GRCh38
NC_000019.9:g.4090601C>T , CM000681.1:g.4090601C>T	GRCh37
NC_000019.8:g.4041601C>T	NCBI36
NG_007996.1:g.38526G>A , LRG_750:g.38526G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1637G>A
ENST00000688002.1:n.3349G>A
ENST00000688751.1:n.334G>A
ENST00000689792.1:n.1102G>A
ENST00000262948.10:c.1198G>A MANE Select	ENSP00000262948.4:p.Val400Met
ENST00000262948.9:c.1198G>A	ENSP00000262948.3:p.Val400Met
ENST00000394867.8:c.907G>A	ENSP00000378336.1:p.Val303Met
ENST00000597263.5:n.383G>A
ENST00000599021.1:c.308G>A
ENST00000600584.5:n.2647G>A
ENST00000601786.5:n.1499G>A
NM_030662.3:c.1198G>A , LRG_750t1:c.1198G>A	NP_109587.1:p.Val400Met
XM_006722799.2:c.919G>A	XP_006722862.1:p.Val307Met
XM_011528133.1:c.628G>A	XP_011526435.1:p.Val210Met
NM_030662.4:c.1198G>A MANE Select	NP_109587.1:p.Val400Met