Canonical Allele Identifier: CA403380951
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs868508659
gnomAD v2: 19-4090653-C-T
gnomAD v4: 19-4090655-C-T
MyVariant Identifiers: chr19:g.4090653C>T (hg19) chr19:g.4090655C>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1585G>A
ENST00000688002.1:n.3297G>A
ENST00000688751.1:n.282G>A
ENST00000689792.1:n.1050G>A
ENST00000262948.10:c.1146G>A MANE Select ENSP00000262948.4:p.Trp382Ter
ENST00000262948.9:c.1146G>A ENSP00000262948.3:p.Trp382Ter
ENST00000394867.8:c.855G>A ENSP00000378336.1:p.Trp285Ter
ENST00000597263.5:n.331G>A
ENST00000599021.1:c.256G>A
ENST00000600584.5:n.2595G>A
ENST00000601786.5:n.1447G>A
NM_030662.3:c.1146G>A , LRG_750t1:c.1146G>A NP_109587.1:p.Trp382Ter
XM_006722799.2:c.867G>A XP_006722862.1:p.Trp289Ter
XM_011528133.1:c.576G>A XP_011526435.1:p.Trp192Ter
NM_030662.4:c.1146G>A MANE Select NP_109587.1:p.Trp382Ter
Search 100 bp 5'
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