Canonical Allele Identifier: CA2582144733
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs778119574
gnomAD v3: 19-4099463-C-T
gnomAD v4: 19-4099463-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4099463C>T , CM000681.2:g.4099463C>T GRCh38
NC_000019.9:g.4099461C>T , CM000681.1:g.4099461C>T GRCh37
NC_000019.8:g.4050461C>T NCBI36
NG_007996.1:g.29666G>A , LRG_750:g.29666G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1145-49G>A
ENST00000687128.1:n.1145-49G>A
ENST00000688002.1:n.951G>A
ENST00000689792.1:n.646-85G>A
ENST00000262948.10:c.706-49G>A MANE Select ENSP00000262948.4:n.706-49G>A
ENST00000262948.9:c.706-49G>A ENSP00000262948.3:n.706-49G>A
ENST00000394867.8:c.415-49G>A ENSP00000378336.1:n.415-49G>A
ENST00000593364.5:n.653-49G>A
ENST00000595715.1:n.472G>A
ENST00000597263.5:n.169+1556G>A
ENST00000599021.1:c.29+1556G>A
ENST00000600584.5:n.1217G>A
ENST00000601786.5:n.1007-49G>A
ENST00000602167.5:n.426-49G>A
NM_030662.3:c.706-49G>A , LRG_750t1:c.706-49G>A NP_109587.1:n.706-49G>A
XM_006722799.2:c.705+1556G>A XP_006722862.1:n.705+1556G>A
XM_011528133.1:c.136-49G>A XP_011526435.1:n.136-49G>A
XM_017026989.1:c.706-49G>A XP_016882478.1:n.706-49G>A
XM_017026990.1:c.705+1556G>A XP_016882479.1:n.705+1556G>A
XM_017026991.1:c.*267G>A XP_016882480.1:n.*267G>A
NM_030662.4:c.706-49G>A MANE Select NP_109587.1:n.706-49G>A