Canonical Allele Identifier: CA403388000

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4099413-G-T
• MyVariant Identifiers: chr19:g.4099411G>T (hg19) ; chr19:g.4099413G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1146C>A
ENST00000687128.1:n.1146C>A
ENST00000688002.1:n.1001C>A
ENST00000689792.1:n.646-35C>A
ENST00000262948.10:c.707C>A MANE Select	ENSP00000262948.4:p.Pro236Gln
ENST00000262948.9:c.707C>A	ENSP00000262948.3:p.Pro236Gln
ENST00000394867.8:c.416C>A	ENSP00000378336.1:p.Pro139Gln
ENST00000593364.5:n.654C>A
ENST00000595715.1:n.522C>A
ENST00000597263.5:n.169+1606C>A
ENST00000599021.1:c.29+1606C>A
ENST00000600584.5:n.1267C>A
ENST00000601786.5:n.1008C>A
ENST00000602167.5:n.427C>A
NM_030662.3:c.707C>A , LRG_750t1:c.707C>A	NP_109587.1:p.Pro236Gln
XM_006722799.2:c.705+1606C>A	XP_006722862.1:n.705+1606C>A
XM_011528133.1:c.137C>A	XP_011526435.1:p.Pro46Gln
XM_017026989.1:c.707C>A	XP_016882478.1:p.Pro236Gln
XM_017026990.1:c.705+1606C>A	XP_016882479.1:n.705+1606C>A
NM_030662.4:c.707C>A MANE Select	NP_109587.1:p.Pro236Gln