Canonical Allele Identifier: CA2580096978
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2026998
ClinVar RCV Id: RCV002871646
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090719_4090722del , CM000681.2:g.4090719_4090722del GRCh38
NC_000019.9:g.4090717_4090720del , CM000681.1:g.4090717_4090720del GRCh37
NC_000019.8:g.4041717_4041720del NCBI36
NG_007996.1:g.38407_38410del , LRG_750:g.38407_38410del

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1532-14_1532-11del
ENST00000688002.1:n.3244-14_3244-11del
ENST00000688751.1:n.229-14_229-11del
ENST00000689792.1:n.997-14_997-11del
ENST00000262948.10:c.1093-14_1093-11del MANE Select ENSP00000262948.4:n.1093-14_1093-11del
ENST00000262948.9:c.1093-14_1093-11del ENSP00000262948.3:n.1093-14_1093-11del
ENST00000394867.8:c.802-14_802-11del ENSP00000378336.1:n.802-14_802-11del
ENST00000597263.5:n.278-14_278-11del
ENST00000599021.1:c.203-14_203-11del
ENST00000600584.5:n.2542-14_2542-11del
ENST00000601786.5:n.1394-14_1394-11del
NM_030662.3:c.1093-14_1093-11del , LRG_750t1:c.1093-14_1093-11del NP_109587.1:n.1093-14_1093-11del
XM_006722799.2:c.814-14_814-11del XP_006722862.1:n.814-14_814-11del
XM_011528133.1:c.523-14_523-11del XP_011526435.1:n.523-14_523-11del
NM_030662.4:c.1093-14_1093-11del MANE Select NP_109587.1:n.1093-14_1093-11del
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