Canonical Allele Identifier: CA2584876623
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090545-TG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090547del , CM000681.2:g.4090547del GRCh38
NC_000019.9:g.4090545del , CM000681.1:g.4090545del GRCh37
NC_000019.8:g.4041545del NCBI36
NG_007996.1:g.38583del , LRG_750:g.38583del

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1694del
ENST00000688002.1:n.3406del
ENST00000688751.1:n.391del
ENST00000689792.1:n.1159del
ENST00000262948.10:c.*52del MANE Select ENSP00000262948.4:n.*52del
ENST00000262948.9:c.*52del ENSP00000262948.3:n.*52del
ENST00000394867.8:c.*52del ENSP00000378336.1:n.*52del
ENST00000597263.5:n.440del
ENST00000600584.5:n.2704del
ENST00000601786.5:n.1556del
NM_030662.3:c.*52del , LRG_750t1:c.*52del NP_109587.1:n.*52del
XM_006722799.2:c.*52del XP_006722862.1:n.*52del
XM_011528133.1:c.*52del XP_011526435.1:n.*52del
NM_030662.4:c.*52del MANE Select NP_109587.1:n.*52del
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