Canonical Allele Identifier: CA10604609

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 283863
• ClinVar RCV Id: RCV000313977
• dbSNP Id: rs759148204
• gnomAD v4: 19-4099216-C-G
• MyVariant Identifiers: chr19:g.4099214C>G (hg19) ; chr19:g.4099216C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099216C>G , CM000681.2:g.4099216C>G	GRCh38
NC_000019.9:g.4099214C>G , CM000681.1:g.4099214C>G	GRCh37
NC_000019.8:g.4050214C>G	NCBI36
NG_007996.1:g.29913G>C , LRG_750:g.29913G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.1343G>C
ENST00000687128.1:n.1343G>C
ENST00000688002.1:n.1198G>C
ENST00000689792.1:n.808G>C
ENST00000262948.10:c.904G>C MANE Select	ENSP00000262948.4:p.Gly302Arg
ENST00000262948.9:c.904G>C	ENSP00000262948.3:p.Gly302Arg
ENST00000394867.8:c.613G>C	ENSP00000378336.1:p.Gly205Arg
ENST00000593364.5:n.851G>C
ENST00000595715.1:n.719G>C
ENST00000597263.5:n.169+1803G>C
ENST00000599021.1:c.29+1803G>C
ENST00000600584.5:n.1464G>C
ENST00000601786.5:n.1205G>C
NM_030662.3:c.904G>C , LRG_750t1:c.904G>C	NP_109587.1:p.Gly302Arg
XM_006722799.2:c.705+1803G>C	XP_006722862.1:n.705+1803G>C
XM_011528133.1:c.334G>C	XP_011526435.1:p.Gly112Arg
XM_017026989.1:c.904G>C	XP_016882478.1:p.Gly302Arg
XM_017026990.1:c.705+1803G>C	XP_016882479.1:n.705+1803G>C
NM_030662.4:c.904G>C MANE Select	NP_109587.1:p.Gly302Arg