Canonical Allele Identifier: CA2584878322
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4099149-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4099149C>A , CM000681.2:g.4099149C>A GRCh38
NC_000019.9:g.4099147C>A , CM000681.1:g.4099147C>A GRCh37
NC_000019.8:g.4050147C>A NCBI36
NG_007996.1:g.29980G>T , LRG_750:g.29980G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1358+52G>T
ENST00000687128.1:n.1410G>T
ENST00000688002.1:n.1265G>T
ENST00000689792.1:n.823+52G>T
ENST00000262948.10:c.919+52G>T MANE Select ENSP00000262948.4:n.919+52G>T
ENST00000262948.9:c.919+52G>T ENSP00000262948.3:n.919+52G>T
ENST00000394867.8:c.628+52G>T ENSP00000378336.1:n.628+52G>T
ENST00000595715.1:n.734+52G>T
ENST00000597263.5:n.169+1870G>T
ENST00000599021.1:c.30-1806G>T
ENST00000600584.5:n.1479+52G>T
ENST00000601786.5:n.1220+52G>T
NM_030662.3:c.919+52G>T , LRG_750t1:c.919+52G>T NP_109587.1:n.919+52G>T
XM_006722799.2:c.705+1870G>T XP_006722862.1:n.705+1870G>T
XM_011528133.1:c.349+52G>T XP_011526435.1:n.349+52G>T
XM_017026989.1:c.919+52G>T XP_016882478.1:n.919+52G>T
XM_017026990.1:c.705+1870G>T XP_016882479.1:n.705+1870G>T
NM_030662.4:c.919+52G>T MANE Select NP_109587.1:n.919+52G>T