Canonical Allele Identifier: CA9090709

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 2585789
• ClinVar RCV Id: RCV003338978
• dbSNP Id: rs776743002
• ExAC: 19:4094480 C / G
• gnomAD v2: 19-4094480-C-G
• gnomAD v4: 19-4094482-C-G
• MyVariant Identifiers: chr19:g.4094480C>G (hg19) ; chr19:g.4094482C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4094482C>G , CM000681.2:g.4094482C>G	GRCh38
NC_000019.9:g.4094480C>G , CM000681.1:g.4094480C>G	GRCh37
NC_000019.8:g.4045480C>G	NCBI36
NG_007996.1:g.34647G>C , LRG_750:g.34647G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1502G>C
ENST00000688002.1:n.3214G>C
ENST00000688751.1:n.199G>C
ENST00000689792.1:n.967G>C
ENST00000262948.10:c.1063G>C MANE Select	ENSP00000262948.4:p.Ala355Pro
ENST00000262948.9:c.1063G>C	ENSP00000262948.3:p.Ala355Pro
ENST00000394867.8:c.772G>C	ENSP00000378336.1:p.Ala258Pro
ENST00000597263.5:n.248G>C
ENST00000599021.1:c.173G>C
ENST00000600584.5:n.2512G>C
ENST00000601786.5:n.1364G>C
NM_030662.3:c.1063G>C , LRG_750t1:c.1063G>C	NP_109587.1:p.Ala355Pro
XM_006722799.2:c.784G>C	XP_006722862.1:p.Ala262Pro
XM_011528133.1:c.493G>C	XP_011526435.1:p.Ala165Pro
NM_030662.4:c.1063G>C MANE Select	NP_109587.1:p.Ala355Pro