Canonical Allele Identifier: CA882241173

Gene: MAP2K2

Linked Data

• dbSNP Id: rs1200226724
• gnomAD v3: 19-4090443-C-G
• gnomAD v4: 19-4090443-C-G
• MyVariant Identifiers: chr19:g.4090441C>G (hg19) ; chr19:g.4090443C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090443C>G , CM000681.2:g.4090443C>G	GRCh38
NC_000019.9:g.4090441C>G , CM000681.1:g.4090441C>G	GRCh37
NC_000019.8:g.4041441C>G	NCBI36
NG_007996.1:g.38686G>C , LRG_750:g.38686G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1797G>C
ENST00000688751.1:n.494G>C
ENST00000689792.1:n.1262G>C
ENST00000262948.10:c.*155G>C MANE Select	ENSP00000262948.4:n.*155G>C
ENST00000262948.9:c.*155G>C	ENSP00000262948.3:n.*155G>C
ENST00000394867.8:c.*155G>C	ENSP00000378336.1:n.*155G>C
ENST00000597263.5:n.543G>C
ENST00000600584.5:n.2807G>C
ENST00000601786.5:n.1659G>C
NM_030662.3:c.*155G>C , LRG_750t1:c.*155G>C	NP_109587.1:n.*155G>C
XM_006722799.2:c.*155G>C	XP_006722862.1:n.*155G>C
XM_011528133.1:c.*155G>C	XP_011526435.1:n.*155G>C
NM_030662.4:c.*155G>C MANE Select	NP_109587.1:n.*155G>C