Canonical Allele Identifier: CA2735517986
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs2145050406

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4099378_4099385del , CM000681.2:g.4099378_4099385del GRCh38
NC_000019.9:g.4099376_4099383del , CM000681.1:g.4099376_4099383del GRCh37
NC_000019.8:g.4050376_4050383del NCBI36
NG_007996.1:g.29744_29751del , LRG_750:g.29744_29751del

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1174_1181del
ENST00000687128.1:n.1174_1181del
ENST00000688002.1:n.1029_1036del
ENST00000689792.1:n.646-7_646del
ENST00000262948.10:c.735_742del MANE Select ENSP00000262948.4:p.Val246GlyfsTer?
ENST00000262948.9:c.735_742del ENSP00000262948.3:p.Val246GlyfsTer?
ENST00000394867.8:c.444_451del ENSP00000378336.1:p.Val149GlyfsTer?
ENST00000593364.5:n.682_689del
ENST00000595715.1:n.550_557del
ENST00000597263.5:n.169+1634_169+1641del
ENST00000599021.1:c.29+1634_29+1641del
ENST00000600584.5:n.1295_1302del
ENST00000601786.5:n.1036_1043del
NM_030662.3:c.735_742del , LRG_750t1:c.735_742del NP_109587.1:p.Val246GlyfsTer?
XM_006722799.2:c.705+1634_705+1641del XP_006722862.1:n.705+1634_705+1641del
XM_011528133.1:c.165_172del XP_011526435.1:p.Val56GlyfsTer?
XM_017026989.1:c.735_742del XP_016882478.1:p.Val246GlyfsTer?
XM_017026990.1:c.705+1634_705+1641del XP_016882479.1:n.705+1634_705+1641del
NM_030662.4:c.735_742del MANE Select NP_109587.1:p.Val246GlyfsTer?