Canonical Allele Identifier: CA304445698

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 2870053
• ClinVar RCV Id: RCV003654507
• dbSNP Id: rs751040819
• gnomAD v4: 19-4090611-C-A
• MyVariant Identifiers: chr19:g.4090609C>A (hg19) ; chr19:g.4090611C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090611C>A , CM000681.2:g.4090611C>A	GRCh38
NC_000019.9:g.4090609C>A , CM000681.1:g.4090609C>A	GRCh37
NC_000019.8:g.4041609C>A	NCBI36
NG_007996.1:g.38518G>T , LRG_750:g.38518G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1629G>T
ENST00000688002.1:n.3341G>T
ENST00000688751.1:n.326G>T
ENST00000689792.1:n.1094G>T
ENST00000262948.10:c.1190G>T MANE Select	ENSP00000262948.4:p.Arg397Leu
ENST00000262948.9:c.1190G>T	ENSP00000262948.3:p.Arg397Leu
ENST00000394867.8:c.899G>T	ENSP00000378336.1:p.Arg300Leu
ENST00000597263.5:n.375G>T
ENST00000599021.1:c.300G>T
ENST00000600584.5:n.2639G>T
ENST00000601786.5:n.1491G>T
NM_030662.3:c.1190G>T , LRG_750t1:c.1190G>T	NP_109587.1:p.Arg397Leu
XM_006722799.2:c.911G>T	XP_006722862.1:p.Arg304Leu
XM_011528133.1:c.620G>T	XP_011526435.1:p.Arg207Leu
NM_030662.4:c.1190G>T MANE Select	NP_109587.1:p.Arg397Leu