Canonical Allele Identifier: CA9090679
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs767674295
gnomAD v2: 19-4090586-C-T
gnomAD v4: 19-4090588-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090588C>T , CM000681.2:g.4090588C>T GRCh38
NC_000019.9:g.4090586C>T , CM000681.1:g.4090586C>T GRCh37
NC_000019.8:g.4041586C>T NCBI36
NG_007996.1:g.38541G>A , LRG_750:g.38541G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1652G>A
ENST00000688002.1:n.3364G>A
ENST00000688751.1:n.349G>A
ENST00000689792.1:n.1117G>A
ENST00000262948.10:c.*10G>A MANE Select ENSP00000262948.4:n.*10G>A
ENST00000262948.9:c.*10G>A ENSP00000262948.3:n.*10G>A
ENST00000394867.8:c.*10G>A ENSP00000378336.1:n.*10G>A
ENST00000597263.5:n.398G>A
ENST00000600584.5:n.2662G>A
ENST00000601786.5:n.1514G>A
NM_030662.3:c.*10G>A , LRG_750t1:c.*10G>A NP_109587.1:n.*10G>A
XM_006722799.2:c.*10G>A XP_006722862.1:n.*10G>A
XM_011528133.1:c.*10G>A XP_011526435.1:n.*10G>A
NM_030662.4:c.*10G>A MANE Select NP_109587.1:n.*10G>A