Canonical Allele Identifier: CA2319219747
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1037390
ClinVar RCV Id: RCV001340534
dbSNP Id: rs2040845949
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090618del , CM000681.2:g.4090618del GRCh38
NC_000019.9:g.4090616del , CM000681.1:g.4090616del GRCh37
NC_000019.8:g.4041616del NCBI36
NG_007996.1:g.38513del , LRG_750:g.38513del

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1624del
ENST00000688002.1:n.3336del
ENST00000688751.1:n.321del
ENST00000689792.1:n.1089del
ENST00000262948.10:c.1185del MANE Select ENSP00000262948.4:p.Thr396ArgfsTer?
ENST00000262948.9:c.1185del ENSP00000262948.3:p.Thr396ArgfsTer?
ENST00000394867.8:c.894del ENSP00000378336.1:p.Thr299ArgfsTer?
ENST00000597263.5:n.370del
ENST00000599021.1:c.295del
ENST00000600584.5:n.2634del
ENST00000601786.5:n.1486del
NM_030662.3:c.1185del , LRG_750t1:c.1185del NP_109587.1:p.Thr396ArgfsTer?
XM_006722799.2:c.906del XP_006722862.1:p.Thr303ArgfsTer?
XM_011528133.1:c.615del XP_011526435.1:p.Thr206ArgfsTer?
NM_030662.4:c.1185del MANE Select NP_109587.1:p.Thr396ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'