Canonical Allele Identifier: CA2576573123
Gene: MAP2K2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090638_4090641dup , CM000681.2:g.4090638_4090641dup GRCh38
NC_000019.9:g.4090636_4090639dup , CM000681.1:g.4090636_4090639dup GRCh37
NC_000019.8:g.4041636_4041639dup NCBI36
NG_007996.1:g.38488_38491dup , LRG_750:g.38488_38491dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1599_1602dup
ENST00000688002.1:n.3311_3314dup
ENST00000688751.1:n.296_299dup
ENST00000689792.1:n.1064_1067dup
ENST00000262948.10:c.1160_1163dup MANE Select ENSP00000262948.4:p.Leu389AlafsTer25
ENST00000262948.9:c.1160_1163dup ENSP00000262948.3:p.Leu389AlafsTer25
ENST00000394867.8:c.869_872dup ENSP00000378336.1:p.Leu292AlafsTer25
ENST00000597263.5:n.345_348dup
ENST00000599021.1:c.270_273dup
ENST00000600584.5:n.2609_2612dup
ENST00000601786.5:n.1461_1464dup
NM_030662.3:c.1160_1163dup , LRG_750t1:c.1160_1163dup NP_109587.1:p.Leu389AlafsTer25
XM_006722799.2:c.881_884dup XP_006722862.1:p.Leu296AlafsTer25
XM_011528133.1:c.590_593dup XP_011526435.1:p.Leu199AlafsTer25
NM_030662.4:c.1160_1163dup MANE Select NP_109587.1:p.Leu389AlafsTer25
Search 100 bp 5'
Search 100 bp 3'