Canonical Allele Identifier: CA403381207
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090698-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090698A>G , CM000681.2:g.4090698A>G GRCh38
NC_000019.9:g.4090696A>G , CM000681.1:g.4090696A>G GRCh37
NC_000019.8:g.4041696A>G NCBI36
NG_007996.1:g.38431T>C , LRG_750:g.38431T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1542T>C
ENST00000688002.1:n.3254T>C
ENST00000688751.1:n.239T>C
ENST00000689792.1:n.1007T>C
ENST00000262948.10:c.1103T>C MANE Select ENSP00000262948.4:p.Phe368Ser
ENST00000262948.9:c.1103T>C ENSP00000262948.3:p.Phe368Ser
ENST00000394867.8:c.812T>C ENSP00000378336.1:p.Phe271Ser
ENST00000597263.5:n.288T>C
ENST00000599021.1:c.213T>C
ENST00000600584.5:n.2552T>C
ENST00000601786.5:n.1404T>C
NM_030662.3:c.1103T>C , LRG_750t1:c.1103T>C NP_109587.1:p.Phe368Ser
XM_006722799.2:c.824T>C XP_006722862.1:p.Phe275Ser
XM_011528133.1:c.533T>C XP_011526435.1:p.Phe178Ser
NM_030662.4:c.1103T>C MANE Select NP_109587.1:p.Phe368Ser