Canonical Allele Identifier: CA2584878523
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4099425-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4099425G>C , CM000681.2:g.4099425G>C GRCh38
NC_000019.9:g.4099423G>C , CM000681.1:g.4099423G>C GRCh37
NC_000019.8:g.4050423G>C NCBI36
NG_007996.1:g.29704C>G , LRG_750:g.29704C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1145-11C>G
ENST00000687128.1:n.1145-11C>G
ENST00000688002.1:n.989C>G
ENST00000689792.1:n.646-47C>G
ENST00000262948.10:c.706-11C>G MANE Select ENSP00000262948.4:n.706-11C>G
ENST00000262948.9:c.706-11C>G ENSP00000262948.3:n.706-11C>G
ENST00000394867.8:c.415-11C>G ENSP00000378336.1:n.415-11C>G
ENST00000593364.5:n.653-11C>G
ENST00000595715.1:n.510C>G
ENST00000597263.5:n.169+1594C>G
ENST00000599021.1:c.29+1594C>G
ENST00000600584.5:n.1255C>G
ENST00000601786.5:n.1007-11C>G
ENST00000602167.5:n.426-11C>G
NM_030662.3:c.706-11C>G , LRG_750t1:c.706-11C>G NP_109587.1:n.706-11C>G
XM_006722799.2:c.705+1594C>G XP_006722862.1:n.705+1594C>G
XM_011528133.1:c.136-11C>G XP_011526435.1:n.136-11C>G
XM_017026989.1:c.706-11C>G XP_016882478.1:n.706-11C>G
XM_017026990.1:c.705+1594C>G XP_016882479.1:n.705+1594C>G
NM_030662.4:c.706-11C>G MANE Select NP_109587.1:n.706-11C>G