Canonical Allele Identifier: CA882241837
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs1490412756
gnomAD v3: 19-4094656-T-C
gnomAD v4: 19-4094656-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4094656T>C , CM000681.2:g.4094656T>C GRCh38
NC_000019.9:g.4094654T>C , CM000681.1:g.4094654T>C GRCh37
NC_000019.8:g.4045654T>C NCBI36
NG_007996.1:g.34473A>G , LRG_750:g.34473A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1486-158A>G
ENST00000688002.1:n.3198-158A>G
ENST00000688751.1:n.183-158A>G
ENST00000689792.1:n.951-158A>G
ENST00000262948.10:c.1047-158A>G MANE Select ENSP00000262948.4:n.1047-158A>G
ENST00000262948.9:c.1047-158A>G ENSP00000262948.3:n.1047-158A>G
ENST00000394867.8:c.756-158A>G ENSP00000378336.1:n.756-158A>G
ENST00000597263.5:n.232-158A>G
ENST00000599021.1:c.157-158A>G
ENST00000600584.5:n.2338A>G
ENST00000601786.5:n.1348-158A>G
NM_030662.3:c.1047-158A>G , LRG_750t1:c.1047-158A>G NP_109587.1:n.1047-158A>G
XM_006722799.2:c.768-158A>G XP_006722862.1:n.768-158A>G
XM_011528133.1:c.477-158A>G XP_011526435.1:n.477-158A>G
XM_017026989.1:c.1437A>G XP_016882478.1:p.Gly479=
XM_017026990.1:c.1158A>G XP_016882479.1:p.Gly386=
NM_030662.4:c.1047-158A>G MANE Select NP_109587.1:n.1047-158A>G