Canonical Allele Identifier: CA2584876742
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090786-TGGCAGATGGTACG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090789_4090801del , CM000681.2:g.4090789_4090801del GRCh38
NC_000019.9:g.4090787_4090799del , CM000681.1:g.4090787_4090799del GRCh37
NC_000019.8:g.4041787_4041799del NCBI36
NG_007996.1:g.38330_38342del , LRG_750:g.38330_38342del

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1532-91_1532-79del
ENST00000688002.1:n.3244-91_3244-79del
ENST00000688751.1:n.229-91_229-79del
ENST00000689792.1:n.997-91_997-79del
ENST00000262948.10:c.1093-91_1093-79del MANE Select ENSP00000262948.4:n.1093-91_1093-79del
ENST00000262948.9:c.1093-91_1093-79del ENSP00000262948.3:n.1093-91_1093-79del
ENST00000394867.8:c.802-91_802-79del ENSP00000378336.1:n.802-91_802-79del
ENST00000597263.5:n.278-91_278-79del
ENST00000599021.1:c.203-91_203-79del
ENST00000600584.5:n.2542-91_2542-79del
ENST00000601786.5:n.1394-91_1394-79del
NM_030662.3:c.1093-91_1093-79del , LRG_750t1:c.1093-91_1093-79del NP_109587.1:n.1093-91_1093-79del
XM_006722799.2:c.814-91_814-79del XP_006722862.1:n.814-91_814-79del
XM_011528133.1:c.523-91_523-79del XP_011526435.1:n.523-91_523-79del
NM_030662.4:c.1093-91_1093-79del MANE Select NP_109587.1:n.1093-91_1093-79del
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