Canonical Allele Identifier: CA2584878227
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4099066-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4099066T>C , CM000681.2:g.4099066T>C GRCh38
NC_000019.9:g.4099064T>C , CM000681.1:g.4099064T>C GRCh37
NC_000019.8:g.4050064T>C NCBI36
NG_007996.1:g.30063A>G , LRG_750:g.30063A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1358+135A>G
ENST00000687128.1:n.1493A>G
ENST00000688002.1:n.1348A>G
ENST00000689792.1:n.823+135A>G
ENST00000262948.10:c.919+135A>G MANE Select ENSP00000262948.4:n.919+135A>G
ENST00000262948.9:c.919+135A>G ENSP00000262948.3:n.919+135A>G
ENST00000394867.8:c.628+135A>G ENSP00000378336.1:n.628+135A>G
ENST00000595715.1:n.734+135A>G
ENST00000597263.5:n.169+1953A>G
ENST00000599021.1:c.30-1723A>G
ENST00000600584.5:n.1479+135A>G
ENST00000601786.5:n.1220+135A>G
NM_030662.3:c.919+135A>G , LRG_750t1:c.919+135A>G NP_109587.1:n.919+135A>G
XM_006722799.2:c.705+1953A>G XP_006722862.1:n.705+1953A>G
XM_011528133.1:c.349+135A>G XP_011526435.1:n.349+135A>G
XM_017026989.1:c.919+135A>G XP_016882478.1:n.919+135A>G
XM_017026990.1:c.705+1953A>G XP_016882479.1:n.705+1953A>G
NM_030662.4:c.919+135A>G MANE Select NP_109587.1:n.919+135A>G