Canonical Allele Identifier: CA2584878286
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4099123-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4099123C>T , CM000681.2:g.4099123C>T GRCh38
NC_000019.9:g.4099121C>T , CM000681.1:g.4099121C>T GRCh37
NC_000019.8:g.4050121C>T NCBI36
NG_007996.1:g.30006G>A , LRG_750:g.30006G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000394867.9:n.1358+78G>A
ENST00000687128.1:n.1436G>A
ENST00000688002.1:n.1291G>A
ENST00000689792.1:n.823+78G>A
ENST00000262948.10:c.919+78G>A MANE Select ENSP00000262948.4:n.919+78G>A
ENST00000262948.9:c.919+78G>A ENSP00000262948.3:n.919+78G>A
ENST00000394867.8:c.628+78G>A ENSP00000378336.1:n.628+78G>A
ENST00000595715.1:n.734+78G>A
ENST00000597263.5:n.169+1896G>A
ENST00000599021.1:c.30-1780G>A
ENST00000600584.5:n.1479+78G>A
ENST00000601786.5:n.1220+78G>A
NM_030662.3:c.919+78G>A , LRG_750t1:c.919+78G>A NP_109587.1:n.919+78G>A
XM_006722799.2:c.705+1896G>A XP_006722862.1:n.705+1896G>A
XM_011528133.1:c.349+78G>A XP_011526435.1:n.349+78G>A
XM_017026989.1:c.919+78G>A XP_016882478.1:n.919+78G>A
XM_017026990.1:c.705+1896G>A XP_016882479.1:n.705+1896G>A
NM_030662.4:c.919+78G>A MANE Select NP_109587.1:n.919+78G>A