Canonical Allele Identifier: CA2555627410
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090663-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090667del , CM000681.2:g.4090667del GRCh38
NC_000019.9:g.4090665del , CM000681.1:g.4090665del GRCh37
NC_000019.8:g.4041665del NCBI36
NG_007996.1:g.38465del , LRG_750:g.38465del

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1576del
ENST00000688002.1:n.3288del
ENST00000688751.1:n.273del
ENST00000689792.1:n.1041del
ENST00000262948.10:c.1137del MANE Select ENSP00000262948.4:p.Phe379LeufsTer11
ENST00000262948.9:c.1137del ENSP00000262948.3:p.Phe379LeufsTer11
ENST00000394867.8:c.846del ENSP00000378336.1:p.Phe282LeufsTer11
ENST00000597263.5:n.322del
ENST00000599021.1:c.247del
ENST00000600584.5:n.2586del
ENST00000601786.5:n.1438del
NM_030662.3:c.1137del , LRG_750t1:c.1137del NP_109587.1:p.Phe379LeufsTer11
XM_006722799.2:c.858del XP_006722862.1:p.Phe286LeufsTer11
XM_011528133.1:c.567del XP_011526435.1:p.Phe189LeufsTer11
NM_030662.4:c.1137del MANE Select NP_109587.1:p.Phe379LeufsTer11
Search 100 bp 5'
Search 100 bp 3'