Canonical Allele Identifier: CA2838033024
Gene: MAP2K2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090698_4090700del , CM000681.2:g.4090698_4090700del GRCh38
NC_000019.9:g.4090696_4090698del , CM000681.1:g.4090696_4090698del GRCh37
NC_000019.8:g.4041696_4041698del NCBI36
NG_007996.1:g.38430_38432del , LRG_750:g.38430_38432del

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1541_1543del
ENST00000688002.1:n.3253_3255del
ENST00000688751.1:n.238_240del
ENST00000689792.1:n.1006_1008del
ENST00000262948.10:c.1102_1104del MANE Select ENSP00000262948.4:p.Phe368del
ENST00000262948.9:c.1102_1104del ENSP00000262948.3:p.Phe368del
ENST00000394867.8:c.811_813del ENSP00000378336.1:p.Phe271del
ENST00000597263.5:n.287_289del
ENST00000599021.1:c.212_214del
ENST00000600584.5:n.2551_2553del
ENST00000601786.5:n.1403_1405del
NM_030662.3:c.1102_1104del , LRG_750t1:c.1102_1104del NP_109587.1:p.Phe368del
XM_006722799.2:c.823_825del XP_006722862.1:p.Phe275del
XM_011528133.1:c.532_534del XP_011526435.1:p.Phe178del
NM_030662.4:c.1102_1104del MANE Select NP_109587.1:p.Phe368del