Canonical Allele Identifier: CA403381074
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090678-C-T
MyVariant Identifiers: chr19:g.4090676C>T (hg19) chr19:g.4090678C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090678C>T , CM000681.2:g.4090678C>T GRCh38
NC_000019.9:g.4090676C>T , CM000681.1:g.4090676C>T GRCh37
NC_000019.8:g.4041676C>T NCBI36
NG_007996.1:g.38451G>A , LRG_750:g.38451G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1562G>A
ENST00000688002.1:n.3274G>A
ENST00000688751.1:n.259G>A
ENST00000689792.1:n.1027G>A
ENST00000262948.10:c.1123G>A MANE Select ENSP00000262948.4:p.Glu375Lys
ENST00000262948.9:c.1123G>A ENSP00000262948.3:p.Glu375Lys
ENST00000394867.8:c.832G>A ENSP00000378336.1:p.Glu278Lys
ENST00000597263.5:n.308G>A
ENST00000599021.1:c.233G>A
ENST00000600584.5:n.2572G>A
ENST00000601786.5:n.1424G>A
NM_030662.3:c.1123G>A , LRG_750t1:c.1123G>A NP_109587.1:p.Glu375Lys
XM_006722799.2:c.844G>A XP_006722862.1:p.Glu282Lys
XM_011528133.1:c.553G>A XP_011526435.1:p.Glu185Lys
NM_030662.4:c.1123G>A MANE Select NP_109587.1:p.Glu375Lys
Search 100 bp 5'
Search 100 bp 3'