Canonical Allele Identifier: CA9090839

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 1757990
• ClinVar RCV Id: RCV002382565
• dbSNP Id: rs150374370
• ExAC: 19:4099392 T / C
• gnomAD v2: 19-4099392-T-C
• gnomAD v3: 19-4099394-T-C
• gnomAD v4: 19-4099394-T-C
• MyVariant Identifiers: chr19:g.4099392T>C (hg19) ; chr19:g.4099394T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099394T>C , CM000681.2:g.4099394T>C	GRCh38
NC_000019.9:g.4099392T>C , CM000681.1:g.4099392T>C	GRCh37
NC_000019.8:g.4050392T>C	NCBI36
NG_007996.1:g.29735A>G , LRG_750:g.29735A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1165A>G
ENST00000687128.1:n.1165A>G
ENST00000688002.1:n.1020A>G
ENST00000689792.1:n.646-16A>G
ENST00000262948.10:c.726A>G MANE Select	ENSP00000262948.4:p.Thr242=
ENST00000262948.9:c.726A>G	ENSP00000262948.3:p.Thr242=
ENST00000394867.8:c.435A>G	ENSP00000378336.1:p.Thr145=
ENST00000593364.5:n.673A>G
ENST00000595715.1:n.541A>G
ENST00000597263.5:n.169+1625A>G
ENST00000599021.1:c.29+1625A>G
ENST00000600584.5:n.1286A>G
ENST00000601786.5:n.1027A>G
NM_030662.3:c.726A>G , LRG_750t1:c.726A>G	NP_109587.1:p.Thr242=
XM_006722799.2:c.705+1625A>G	XP_006722862.1:n.705+1625A>G
XM_011528133.1:c.156A>G	XP_011526435.1:p.Thr52=
XM_017026989.1:c.726A>G	XP_016882478.1:p.Thr242=
XM_017026990.1:c.705+1625A>G	XP_016882479.1:n.705+1625A>G
NM_030662.4:c.726A>G MANE Select	NP_109587.1:p.Thr242=