Canonical Allele Identifier: CA2584876513
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090443-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090443C>A , CM000681.2:g.4090443C>A GRCh38
NC_000019.9:g.4090441C>A , CM000681.1:g.4090441C>A GRCh37
NC_000019.8:g.4041441C>A NCBI36
NG_007996.1:g.38686G>T , LRG_750:g.38686G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1797G>T
ENST00000688751.1:n.494G>T
ENST00000689792.1:n.1262G>T
ENST00000262948.10:c.*155G>T MANE Select ENSP00000262948.4:n.*155G>T
ENST00000262948.9:c.*155G>T ENSP00000262948.3:n.*155G>T
ENST00000394867.8:c.*155G>T ENSP00000378336.1:n.*155G>T
ENST00000597263.5:n.543G>T
ENST00000600584.5:n.2807G>T
ENST00000601786.5:n.1659G>T
NM_030662.3:c.*155G>T , LRG_750t1:c.*155G>T NP_109587.1:n.*155G>T
XM_006722799.2:c.*155G>T XP_006722862.1:n.*155G>T
XM_011528133.1:c.*155G>T XP_011526435.1:n.*155G>T
NM_030662.4:c.*155G>T MANE Select NP_109587.1:n.*155G>T
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