Canonical Allele Identifier: CA2584876408
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090337-CTGTTT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090346_4090350del , CM000681.2:g.4090346_4090350del GRCh38
NC_000019.9:g.4090344_4090348del , CM000681.1:g.4090344_4090348del GRCh37
NC_000019.8:g.4041344_4041348del NCBI36
NG_007996.1:g.38787_38791del , LRG_750:g.38787_38791del

Transcript Alleles

HGVS Amino-acid Change
ENST00000689792.1:n.1363_1367del
ENST00000262948.10:c.*256_*260del MANE Select ENSP00000262948.4:n.*256_*260del
ENST00000262948.9:c.*256_*260del ENSP00000262948.3:n.*256_*260del
ENST00000394867.8:c.*256_*260del ENSP00000378336.1:n.*256_*260del
ENST00000600584.5:n.2908_2912del
ENST00000601786.5:n.1760_1764del
NM_030662.3:c.*256_*260del , LRG_750t1:c.*256_*260del NP_109587.1:n.*256_*260del
XM_006722799.2:c.*256_*260del XP_006722862.1:n.*256_*260del
XM_011528133.1:c.*256_*260del XP_011526435.1:n.*256_*260del
NM_030662.4:c.*256_*260del MANE Select NP_109587.1:n.*256_*260del
Search 100 bp 5'
Search 100 bp 3'