Canonical Allele Identifier: CA2584876580
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090509-AGGCGCCAGCCTGTCCTCAGCT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090512_4090532del , CM000681.2:g.4090512_4090532del GRCh38
NC_000019.9:g.4090510_4090530del , CM000681.1:g.4090510_4090530del GRCh37
NC_000019.8:g.4041510_4041530del NCBI36
NG_007996.1:g.38599_38619del , LRG_750:g.38599_38619del

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1710_1730del
ENST00000688002.1:n.3422_3442del
ENST00000688751.1:n.407_427del
ENST00000689792.1:n.1175_1195del
ENST00000262948.10:c.*68_*88del MANE Select ENSP00000262948.4:n.*68_*88del
ENST00000262948.9:c.*68_*88del ENSP00000262948.3:n.*68_*88del
ENST00000394867.8:c.*68_*88del ENSP00000378336.1:n.*68_*88del
ENST00000597263.5:n.456_476del
ENST00000600584.5:n.2720_2740del
ENST00000601786.5:n.1572_1592del
NM_030662.3:c.*68_*88del , LRG_750t1:c.*68_*88del NP_109587.1:n.*68_*88del
XM_006722799.2:c.*68_*88del XP_006722862.1:n.*68_*88del
XM_011528133.1:c.*68_*88del XP_011526435.1:n.*68_*88del
NM_030662.4:c.*68_*88del MANE Select NP_109587.1:n.*68_*88del
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