Canonical Allele Identifier: CA9090711

Gene: MAP2K2

Linked Data

• dbSNP Id: rs770625938
• ExAC: 19:4094488 T / C
• gnomAD v2: 19-4094488-T-C
• gnomAD v4: 19-4094490-T-C
• MyVariant Identifiers: chr19:g.4094488T>C (hg19) ; chr19:g.4094490T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4094490T>C , CM000681.2:g.4094490T>C	GRCh38
NC_000019.9:g.4094488T>C , CM000681.1:g.4094488T>C	GRCh37
NC_000019.8:g.4045488T>C	NCBI36
NG_007996.1:g.34639A>G , LRG_750:g.34639A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1494A>G
ENST00000688002.1:n.3206A>G
ENST00000688751.1:n.191A>G
ENST00000689792.1:n.959A>G
ENST00000262948.10:c.1055A>G MANE Select	ENSP00000262948.4:p.Lys352Arg
ENST00000262948.9:c.1055A>G	ENSP00000262948.3:p.Lys352Arg
ENST00000394867.8:c.764A>G	ENSP00000378336.1:p.Lys255Arg
ENST00000597263.5:n.240A>G
ENST00000599021.1:c.165A>G
ENST00000600584.5:n.2504A>G
ENST00000601786.5:n.1356A>G
NM_030662.3:c.1055A>G , LRG_750t1:c.1055A>G	NP_109587.1:p.Lys352Arg
XM_006722799.2:c.776A>G	XP_006722862.1:p.Lys259Arg
XM_011528133.1:c.485A>G	XP_011526435.1:p.Lys162Arg
NM_030662.4:c.1055A>G MANE Select	NP_109587.1:p.Lys352Arg