Canonical Allele Identifier: CA2584876670
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090644-G-GTT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090647_4090648dup , CM000681.2:g.4090647_4090648dup GRCh38
NC_000019.9:g.4090645_4090646dup , CM000681.1:g.4090645_4090646dup GRCh37
NC_000019.8:g.4041645_4041646dup NCBI36
NG_007996.1:g.38483_38484dup , LRG_750:g.38483_38484dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1594_1595dup
ENST00000688002.1:n.3306_3307dup
ENST00000688751.1:n.291_292dup
ENST00000689792.1:n.1059_1060dup
ENST00000262948.10:c.1155_1156dup MANE Select ENSP00000262948.4:p.Thr386LysfsTer5
ENST00000262948.9:c.1155_1156dup ENSP00000262948.3:p.Thr386LysfsTer5
ENST00000394867.8:c.864_865dup ENSP00000378336.1:p.Thr289LysfsTer5
ENST00000597263.5:n.340_341dup
ENST00000599021.1:c.265_266dup
ENST00000600584.5:n.2604_2605dup
ENST00000601786.5:n.1456_1457dup
NM_030662.3:c.1155_1156dup , LRG_750t1:c.1155_1156dup NP_109587.1:p.Thr386LysfsTer5
XM_006722799.2:c.876_877dup XP_006722862.1:p.Thr293LysfsTer5
XM_011528133.1:c.585_586dup XP_011526435.1:p.Thr196LysfsTer5
NM_030662.4:c.1155_1156dup MANE Select NP_109587.1:p.Thr386LysfsTer5
Search 100 bp 5'
Search 100 bp 3'