Canonical Allele Identifier: CA631714507
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs1187928023

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4099245_4099246del , CM000681.2:g.4099245_4099246del GRCh38
NC_000019.9:g.4099243_4099244del , CM000681.1:g.4099243_4099244del GRCh37
NC_000019.8:g.4050243_4050244del NCBI36
NG_007996.1:g.29885_29886del , LRG_750:g.29885_29886del

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1315_1316del
ENST00000687128.1:n.1315_1316del
ENST00000688002.1:n.1170_1171del
ENST00000689792.1:n.780_781del
ENST00000262948.10:c.876_877del MANE Select ENSP00000262948.4:p.His292GlnfsTer20
ENST00000262948.9:c.876_877del ENSP00000262948.3:p.His292GlnfsTer20
ENST00000394867.8:c.585_586del ENSP00000378336.1:p.His195GlnfsTer20
ENST00000593364.5:n.823_824del
ENST00000595715.1:n.691_692del
ENST00000597263.5:n.169+1775_169+1776del
ENST00000599021.1:c.29+1775_29+1776del
ENST00000600584.5:n.1436_1437del
ENST00000601786.5:n.1177_1178del
NM_030662.3:c.876_877del , LRG_750t1:c.876_877del NP_109587.1:p.His292GlnfsTer20
XM_006722799.2:c.705+1775_705+1776del XP_006722862.1:n.705+1775_705+1776del
XM_011528133.1:c.306_307del XP_011526435.1:p.His102GlnfsTer20
XM_017026989.1:c.876_877del XP_016882478.1:p.His292GlnfsTer20
XM_017026990.1:c.705+1775_705+1776del XP_016882479.1:n.705+1775_705+1776del
NM_030662.4:c.876_877del MANE Select NP_109587.1:p.His292GlnfsTer20