Canonical Allele Identifier: CA2584876666
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090598-TCA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090602_4090603del , CM000681.2:g.4090602_4090603del GRCh38
NC_000019.9:g.4090600_4090601del , CM000681.1:g.4090600_4090601del GRCh37
NC_000019.8:g.4041600_4041601del NCBI36
NG_007996.1:g.38529_38530del , LRG_750:g.38529_38530del

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1640_1641del
ENST00000688002.1:n.3352_3353del
ENST00000688751.1:n.337_338del
ENST00000689792.1:n.1105_1106del
ENST00000262948.10:c.1201_1202del MANE Select ENSP00000262948.4:p.Ter401ThrextTer11
ENST00000262948.9:c.1201_1202del ENSP00000262948.3:p.Ter401ThrextTer11
ENST00000394867.8:c.910_911del ENSP00000378336.1:p.Ter304ThrextTer11
ENST00000597263.5:n.386_387del
ENST00000599021.1:c.311_312del
ENST00000600584.5:n.2650_2651del
ENST00000601786.5:n.1502_1503del
NM_030662.3:c.1201_1202del , LRG_750t1:c.1201_1202del NP_109587.1:p.Ter401ThrextTer11
XM_006722799.2:c.922_923del XP_006722862.1:p.Ter308ThrextTer11
XM_011528133.1:c.631_632del XP_011526435.1:p.Ter211ThrextTer11
NM_030662.4:c.1201_1202del MANE Select NP_109587.1:p.Ter401ThrextTer11
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