Canonical Allele Identifier: CA403383253

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4095405-C-G
• MyVariant Identifiers: chr19:g.4095403C>G (hg19) ; chr19:g.4095405C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4095405C>G , CM000681.2:g.4095405C>G	GRCh38
NC_000019.9:g.4095403C>G , CM000681.1:g.4095403C>G	GRCh37
NC_000019.8:g.4046403C>G	NCBI36
NG_007996.1:g.33724G>C , LRG_750:g.33724G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1468G>C
ENST00000688002.1:n.3180G>C
ENST00000688751.1:n.165G>C
ENST00000689792.1:n.933G>C
ENST00000262948.10:c.1029G>C MANE Select	ENSP00000262948.4:p.Gln343His
ENST00000262948.9:c.1029G>C	ENSP00000262948.3:p.Gln343His
ENST00000394867.8:c.738G>C	ENSP00000378336.1:p.Gln246His
ENST00000595715.1:n.844G>C
ENST00000597263.5:n.214G>C
ENST00000599021.1:c.139G>C
ENST00000600584.5:n.1589G>C
ENST00000601786.5:n.1330G>C
NM_030662.3:c.1029G>C , LRG_750t1:c.1029G>C	NP_109587.1:p.Gln343His
XM_006722799.2:c.750G>C	XP_006722862.1:p.Gln250His
XM_011528133.1:c.459G>C	XP_011526435.1:p.Gln153His
XM_017026989.1:c.1029G>C	XP_016882478.1:p.Gln343His
XM_017026990.1:c.750G>C	XP_016882479.1:p.Gln250His
NM_030662.4:c.1029G>C MANE Select	NP_109587.1:p.Gln343His