Canonical Allele Identifier: CA504987047

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 2065782
• ClinVar RCV Id: RCV002958731
• dbSNP Id: rs2145050534
• MyVariant Identifiers: chr19:g.4099403A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099405A>G , CM000681.2:g.4099405A>G	GRCh38
NC_000019.9:g.4099403A>G , CM000681.1:g.4099403A>G	GRCh37
NC_000019.8:g.4050403A>G	NCBI36
NG_007996.1:g.29724T>C , LRG_750:g.29724T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1154T>C
ENST00000687128.1:n.1154T>C
ENST00000688002.1:n.1009T>C
ENST00000689792.1:n.646-27T>C
ENST00000262948.10:c.715T>C MANE Select	ENSP00000262948.4:p.Leu239=
ENST00000262948.9:c.715T>C	ENSP00000262948.3:p.Leu239=
ENST00000394867.8:c.424T>C	ENSP00000378336.1:p.Leu142=
ENST00000593364.5:n.662T>C
ENST00000595715.1:n.530T>C
ENST00000597263.5:n.169+1614T>C
ENST00000599021.1:c.29+1614T>C
ENST00000600584.5:n.1275T>C
ENST00000601786.5:n.1016T>C
NM_030662.3:c.715T>C , LRG_750t1:c.715T>C	NP_109587.1:p.Leu239=
XM_006722799.2:c.705+1614T>C	XP_006722862.1:n.705+1614T>C
XM_011528133.1:c.145T>C	XP_011526435.1:p.Leu49=
XM_017026989.1:c.715T>C	XP_016882478.1:p.Leu239=
XM_017026990.1:c.705+1614T>C	XP_016882479.1:n.705+1614T>C
NM_030662.4:c.715T>C MANE Select	NP_109587.1:p.Leu239=