Canonical Allele Identifier: CA403382541

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4094491-T-C
• MyVariant Identifiers: chr19:g.4094489T>C (hg19) ; chr19:g.4094491T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4094491T>C , CM000681.2:g.4094491T>C	GRCh38
NC_000019.9:g.4094489T>C , CM000681.1:g.4094489T>C	GRCh37
NC_000019.8:g.4045489T>C	NCBI36
NG_007996.1:g.34638A>G , LRG_750:g.34638A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1493A>G
ENST00000688002.1:n.3205A>G
ENST00000688751.1:n.190A>G
ENST00000689792.1:n.958A>G
ENST00000262948.10:c.1054A>G MANE Select	ENSP00000262948.4:p.Lys352Glu
ENST00000262948.9:c.1054A>G	ENSP00000262948.3:p.Lys352Glu
ENST00000394867.8:c.763A>G	ENSP00000378336.1:p.Lys255Glu
ENST00000597263.5:n.239A>G
ENST00000599021.1:c.164A>G
ENST00000600584.5:n.2503A>G
ENST00000601786.5:n.1355A>G
NM_030662.3:c.1054A>G , LRG_750t1:c.1054A>G	NP_109587.1:p.Lys352Glu
XM_006722799.2:c.775A>G	XP_006722862.1:p.Lys259Glu
XM_011528133.1:c.484A>G	XP_011526435.1:p.Lys162Glu
NM_030662.4:c.1054A>G MANE Select	NP_109587.1:p.Lys352Glu