Canonical Allele Identifier: CA9090793

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 378903
• ClinVar RCV Id: RCV000441432 ; RCV001175517 ; RCV001478102 ; RCV003942338
• dbSNP Id: rs780890887
• ExAC: 19:4099189 C / T
• gnomAD v2: 19-4099189-C-T
• gnomAD v3: 19-4099191-C-T
• gnomAD v4: 19-4099191-C-T
• MyVariant Identifiers: chr19:g.4099189C>T (hg19) ; chr19:g.4099191C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099191C>T , CM000681.2:g.4099191C>T	GRCh38
NC_000019.9:g.4099189C>T , CM000681.1:g.4099189C>T	GRCh37
NC_000019.8:g.4050189C>T	NCBI36
NG_007996.1:g.29938G>A , LRG_750:g.29938G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1358+10G>A
ENST00000687128.1:n.1368G>A
ENST00000688002.1:n.1223G>A
ENST00000689792.1:n.823+10G>A
ENST00000262948.10:c.919+10G>A MANE Select	ENSP00000262948.4:n.919+10G>A
ENST00000262948.9:c.919+10G>A	ENSP00000262948.3:n.919+10G>A
ENST00000394867.8:c.628+10G>A	ENSP00000378336.1:n.628+10G>A
ENST00000595715.1:n.734+10G>A
ENST00000597263.5:n.169+1828G>A
ENST00000599021.1:c.29+1828G>A
ENST00000600584.5:n.1479+10G>A
ENST00000601786.5:n.1220+10G>A
NM_030662.3:c.919+10G>A , LRG_750t1:c.919+10G>A	NP_109587.1:n.919+10G>A
XM_006722799.2:c.705+1828G>A	XP_006722862.1:n.705+1828G>A
XM_011528133.1:c.349+10G>A	XP_011526435.1:n.349+10G>A
XM_017026989.1:c.919+10G>A	XP_016882478.1:n.919+10G>A
XM_017026990.1:c.705+1828G>A	XP_016882479.1:n.705+1828G>A
NM_030662.4:c.919+10G>A MANE Select	NP_109587.1:n.919+10G>A