Canonical Allele Identifier: CA2584878552
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4099469-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4099469C>G , CM000681.2:g.4099469C>G GRCh38
NC_000019.9:g.4099467C>G , CM000681.1:g.4099467C>G GRCh37
NC_000019.8:g.4050467C>G NCBI36
NG_007996.1:g.29660G>C , LRG_750:g.29660G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1145-55G>C
ENST00000687128.1:n.1145-55G>C
ENST00000688002.1:n.945G>C
ENST00000689792.1:n.646-91G>C
ENST00000262948.10:c.706-55G>C MANE Select ENSP00000262948.4:n.706-55G>C
ENST00000262948.9:c.706-55G>C ENSP00000262948.3:n.706-55G>C
ENST00000394867.8:c.415-55G>C ENSP00000378336.1:n.415-55G>C
ENST00000593364.5:n.653-55G>C
ENST00000595715.1:n.466G>C
ENST00000597263.5:n.169+1550G>C
ENST00000599021.1:c.29+1550G>C
ENST00000600584.5:n.1211G>C
ENST00000601786.5:n.1007-55G>C
ENST00000602167.5:n.426-55G>C
NM_030662.3:c.706-55G>C , LRG_750t1:c.706-55G>C NP_109587.1:n.706-55G>C
XM_006722799.2:c.705+1550G>C XP_006722862.1:n.705+1550G>C
XM_011528133.1:c.136-55G>C XP_011526435.1:n.136-55G>C
XM_017026989.1:c.706-55G>C XP_016882478.1:n.706-55G>C
XM_017026990.1:c.705+1550G>C XP_016882479.1:n.705+1550G>C
XM_017026991.1:c.*261G>C XP_016882480.1:n.*261G>C
NM_030662.4:c.706-55G>C MANE Select NP_109587.1:n.706-55G>C