Canonical Allele Identifier: CA2813356122
Gene: MAP2K2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090609del , CM000681.2:g.4090609del GRCh38
NC_000019.9:g.4090607del , CM000681.1:g.4090607del GRCh37
NC_000019.8:g.4041607del NCBI36
NG_007996.1:g.38520del , LRG_750:g.38520del

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1631del
ENST00000688002.1:n.3343del
ENST00000688751.1:n.328del
ENST00000689792.1:n.1096del
ENST00000262948.10:c.1192del MANE Select ENSP00000262948.4:p.Thr398ProfsTer28
ENST00000262948.9:c.1192del ENSP00000262948.3:p.Thr398ProfsTer28
ENST00000394867.8:c.901del ENSP00000378336.1:p.Thr301ProfsTer28
ENST00000597263.5:n.377del
ENST00000599021.1:c.302del
ENST00000600584.5:n.2641del
ENST00000601786.5:n.1493del
NM_030662.3:c.1192del , LRG_750t1:c.1192del NP_109587.1:p.Thr398ProfsTer28
XM_006722799.2:c.913del XP_006722862.1:p.Thr305ProfsTer28
XM_011528133.1:c.622del XP_011526435.1:p.Thr208ProfsTer28
NM_030662.4:c.1192del MANE Select NP_109587.1:p.Thr398ProfsTer28
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