Canonical Allele Identifier: CA403380729
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2882490
ClinVar RCV Id: RCV003654568
dbSNP Id: rs1202213101
gnomAD v2: 19-4090621-C-A
gnomAD v4: 19-4090623-C-A
MyVariant Identifiers: chr19:g.4090621C>A (hg19) chr19:g.4090623C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090623C>A , CM000681.2:g.4090623C>A GRCh38
NC_000019.9:g.4090621C>A , CM000681.1:g.4090621C>A GRCh37
NC_000019.8:g.4041621C>A NCBI36
NG_007996.1:g.38506G>T , LRG_750:g.38506G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1617G>T
ENST00000688002.1:n.3329G>T
ENST00000688751.1:n.314G>T
ENST00000689792.1:n.1082G>T
ENST00000262948.10:c.1178G>T MANE Select ENSP00000262948.4:p.Gly393Val
ENST00000262948.9:c.1178G>T ENSP00000262948.3:p.Gly393Val
ENST00000394867.8:c.887G>T ENSP00000378336.1:p.Gly296Val
ENST00000597263.5:n.363G>T
ENST00000599021.1:c.288G>T
ENST00000600584.5:n.2627G>T
ENST00000601786.5:n.1479G>T
NM_030662.3:c.1178G>T , LRG_750t1:c.1178G>T NP_109587.1:p.Gly393Val
XM_006722799.2:c.899G>T XP_006722862.1:p.Gly300Val
XM_011528133.1:c.608G>T XP_011526435.1:p.Gly203Val
NM_030662.4:c.1178G>T MANE Select NP_109587.1:p.Gly393Val
Search 100 bp 5'
Search 100 bp 3'