Canonical Allele Identifier: CA403387996

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 591250
• ClinVar RCV Id: RCV000722428 ; RCV003338769 ; RCV003540854
• dbSNP Id: rs1309234276
• gnomAD v2: 19-4099411-G-A
• gnomAD v3: 19-4099413-G-A
• gnomAD v4: 19-4099413-G-A
• MyVariant Identifiers: chr19:g.4099411G>A (hg19) ; chr19:g.4099413G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099413G>A , CM000681.2:g.4099413G>A	GRCh38
NC_000019.9:g.4099411G>A , CM000681.1:g.4099411G>A	GRCh37
NC_000019.8:g.4050411G>A	NCBI36
NG_007996.1:g.29716C>T , LRG_750:g.29716C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1146C>T
ENST00000687128.1:n.1146C>T
ENST00000688002.1:n.1001C>T
ENST00000689792.1:n.646-35C>T
ENST00000262948.10:c.707C>T MANE Select	ENSP00000262948.4:p.Pro236Leu
ENST00000262948.9:c.707C>T	ENSP00000262948.3:p.Pro236Leu
ENST00000394867.8:c.416C>T	ENSP00000378336.1:p.Pro139Leu
ENST00000593364.5:n.654C>T
ENST00000595715.1:n.522C>T
ENST00000597263.5:n.169+1606C>T
ENST00000599021.1:c.29+1606C>T
ENST00000600584.5:n.1267C>T
ENST00000601786.5:n.1008C>T
ENST00000602167.5:n.427C>T
NM_030662.3:c.707C>T , LRG_750t1:c.707C>T	NP_109587.1:p.Pro236Leu
XM_006722799.2:c.705+1606C>T	XP_006722862.1:n.705+1606C>T
XM_011528133.1:c.137C>T	XP_011526435.1:p.Pro46Leu
XM_017026989.1:c.707C>T	XP_016882478.1:p.Pro236Leu
XM_017026990.1:c.705+1606C>T	XP_016882479.1:n.705+1606C>T
NM_030662.4:c.707C>T MANE Select	NP_109587.1:p.Pro236Leu