Canonical Allele Identifier: CA403392835

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4117580-C-G
• MyVariant Identifiers: chr19:g.4117578C>G (hg19) ; chr19:g.4117580C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4117580C>G , CM000681.2:g.4117580C>G	GRCh38
NC_000019.9:g.4117578C>G , CM000681.1:g.4117578C>G	GRCh37
NC_000019.8:g.4068578C>G	NCBI36
NG_007996.1:g.11549G>C , LRG_750:g.11549G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.581G>C
ENST00000687128.1:n.581G>C
ENST00000262948.10:c.142G>C MANE Select	ENSP00000262948.4:p.Glu48Gln
ENST00000262948.9:c.142G>C	ENSP00000262948.3:p.Glu48Gln
ENST00000394867.8:c.-150G>C	ENSP00000378336.1:n.-150G>C
ENST00000599345.1:n.339G>C
NM_030662.3:c.142G>C , LRG_750t1:c.142G>C	NP_109587.1:p.Glu48Gln
XM_006722799.2:c.142G>C	XP_006722862.1:p.Glu48Gln
XM_017026989.1:c.142G>C	XP_016882478.1:p.Glu48Gln
XM_017026990.1:c.142G>C	XP_016882479.1:p.Glu48Gln
XM_017026991.1:c.142G>C	XP_016882480.1:p.Glu48Gln
NM_030662.4:c.142G>C MANE Select	NP_109587.1:p.Glu48Gln