Canonical Allele Identifier: CA504984459

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 1625736
• ClinVar RCV Id: RCV002109190
• dbSNP Id: rs2145041881
• gnomAD v4: 19-4094492-G-A
• MyVariant Identifiers: chr19:g.4094490G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4094492G>A , CM000681.2:g.4094492G>A	GRCh38
NC_000019.9:g.4094490G>A , CM000681.1:g.4094490G>A	GRCh37
NC_000019.8:g.4045490G>A	NCBI36
NG_007996.1:g.34637C>T , LRG_750:g.34637C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1492C>T
ENST00000688002.1:n.3204C>T
ENST00000688751.1:n.189C>T
ENST00000689792.1:n.957C>T
ENST00000262948.10:c.1053C>T MANE Select	ENSP00000262948.4:p.Ile351=
ENST00000262948.9:c.1053C>T	ENSP00000262948.3:p.Ile351=
ENST00000394867.8:c.762C>T	ENSP00000378336.1:p.Ile254=
ENST00000597263.5:n.238C>T
ENST00000599021.1:c.163C>T
ENST00000600584.5:n.2502C>T
ENST00000601786.5:n.1354C>T
NM_030662.3:c.1053C>T , LRG_750t1:c.1053C>T	NP_109587.1:p.Ile351=
XM_006722799.2:c.774C>T	XP_006722862.1:p.Ile258=
XM_011528133.1:c.483C>T	XP_011526435.1:p.Ile161=
NM_030662.4:c.1053C>T MANE Select	NP_109587.1:p.Ile351=