Canonical Allele Identifier: CA304445708
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs868508659
gnomAD v4: 19-4090655-C-A
MyVariant Identifiers: chr19:g.4090653C>A (hg19) chr19:g.4090655C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090655C>A , CM000681.2:g.4090655C>A GRCh38
NC_000019.9:g.4090653C>A , CM000681.1:g.4090653C>A GRCh37
NC_000019.8:g.4041653C>A NCBI36
NG_007996.1:g.38474G>T , LRG_750:g.38474G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1585G>T
ENST00000688002.1:n.3297G>T
ENST00000688751.1:n.282G>T
ENST00000689792.1:n.1050G>T
ENST00000262948.10:c.1146G>T MANE Select ENSP00000262948.4:p.Trp382Cys
ENST00000262948.9:c.1146G>T ENSP00000262948.3:p.Trp382Cys
ENST00000394867.8:c.855G>T ENSP00000378336.1:p.Trp285Cys
ENST00000597263.5:n.331G>T
ENST00000599021.1:c.256G>T
ENST00000600584.5:n.2595G>T
ENST00000601786.5:n.1447G>T
NM_030662.3:c.1146G>T , LRG_750t1:c.1146G>T NP_109587.1:p.Trp382Cys
XM_006722799.2:c.867G>T XP_006722862.1:p.Trp289Cys
XM_011528133.1:c.576G>T XP_011526435.1:p.Trp192Cys
NM_030662.4:c.1146G>T MANE Select NP_109587.1:p.Trp382Cys
Search 100 bp 5'
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