Canonical Allele Identifier: CA9091070
Community Standard Title: NM_030662.4(MAP2K2):c.240G>A (p.Ala80=)
Gene: MAP2K2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4117482C>T , CM000681.2:g.4117482C>T GRCh38
NC_000019.9:g.4117480C>T , CM000681.1:g.4117480C>T GRCh37
NC_000019.8:g.4068480C>T NCBI36
NG_007996.1:g.11647G>A , LRG_750:g.11647G>A

Transcript Alleles

HGVS Amino-acid Change
NM_030662.4:c.240G>A MANE Select NP_109587.1:p.Ala80=
ENST00000262948.10:c.240G>A MANE Select ENSP00000262948.4:p.Ala80=
NM_030662.3:c.240G>A , LRG_750t1:c.240G>A NP_109587.1:p.Ala80=
ENST00000262948.9:c.240G>A ENSP00000262948.3:p.Ala80=
ENST00000394867.8:c.-52G>A ENSP00000378336.1:n.-52G>A
ENST00000394867.9:n.679G>A
ENST00000599345.1:n.437G>A
ENST00000687128.1:n.679G>A
XM_006722799.2:c.240G>A XP_006722862.1:p.Ala80=
XM_017026989.1:c.240G>A XP_016882478.1:p.Ala80=
XM_017026990.1:c.240G>A XP_016882479.1:p.Ala80=
XM_017026991.1:c.240G>A XP_016882480.1:p.Ala80=