Canonical Allele Identifier: CA504984294

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 2979927
• ClinVar RCV Id: RCV003835037
• gnomAD v4: 19-4090604-G-C
• MyVariant Identifiers: chr19:g.4090602G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090604G>C , CM000681.2:g.4090604G>C	GRCh38
NC_000019.9:g.4090602G>C , CM000681.1:g.4090602G>C	GRCh37
NC_000019.8:g.4041602G>C	NCBI36
NG_007996.1:g.38525C>G , LRG_750:g.38525C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.1636C>G
ENST00000688002.1:n.3348C>G
ENST00000688751.1:n.333C>G
ENST00000689792.1:n.1101C>G
ENST00000262948.10:c.1197C>G MANE Select	ENSP00000262948.4:p.Ala399=
ENST00000262948.9:c.1197C>G	ENSP00000262948.3:p.Ala399=
ENST00000394867.8:c.906C>G	ENSP00000378336.1:p.Ala302=
ENST00000597263.5:n.382C>G
ENST00000599021.1:c.307C>G
ENST00000600584.5:n.2646C>G
ENST00000601786.5:n.1498C>G
NM_030662.3:c.1197C>G , LRG_750t1:c.1197C>G	NP_109587.1:p.Ala399=
XM_006722799.2:c.918C>G	XP_006722862.1:p.Ala306=
XM_011528133.1:c.627C>G	XP_011526435.1:p.Ala209=
NM_030662.4:c.1197C>G MANE Select	NP_109587.1:p.Ala399=