Canonical Allele Identifier: CA2584876557
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090492-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090492G>T , CM000681.2:g.4090492G>T GRCh38
NC_000019.9:g.4090490G>T , CM000681.1:g.4090490G>T GRCh37
NC_000019.8:g.4041490G>T NCBI36
NG_007996.1:g.38637C>A , LRG_750:g.38637C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000394867.9:n.1748C>A
ENST00000688002.1:n.3460C>A
ENST00000688751.1:n.445C>A
ENST00000689792.1:n.1213C>A
ENST00000262948.10:c.*106C>A MANE Select ENSP00000262948.4:n.*106C>A
ENST00000262948.9:c.*106C>A ENSP00000262948.3:n.*106C>A
ENST00000394867.8:c.*106C>A ENSP00000378336.1:n.*106C>A
ENST00000597263.5:n.494C>A
ENST00000600584.5:n.2758C>A
ENST00000601786.5:n.1610C>A
NM_030662.3:c.*106C>A , LRG_750t1:c.*106C>A NP_109587.1:n.*106C>A
XM_006722799.2:c.*106C>A XP_006722862.1:n.*106C>A
XM_011528133.1:c.*106C>A XP_011526435.1:n.*106C>A
NM_030662.4:c.*106C>A MANE Select NP_109587.1:n.*106C>A