Canonical Allele Identifier: CA631537051
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs397517410
gnomAD v2: 19-4090587-C-G
gnomAD v4: 19-4090589-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090589C>G , CM000681.2:g.4090589C>G GRCh38
NC_000019.9:g.4090587C>G , CM000681.1:g.4090587C>G GRCh37
NC_000019.8:g.4041587C>G NCBI36
NG_007996.1:g.38540G>C , LRG_750:g.38540G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000394867.9:n.1651G>C
ENST00000688002.1:n.3363G>C
ENST00000688751.1:n.348G>C
ENST00000689792.1:n.1116G>C
ENST00000262948.10:c.*9G>C MANE Select ENSP00000262948.4:n.*9G>C
ENST00000262948.9:c.*9G>C ENSP00000262948.3:n.*9G>C
ENST00000394867.8:c.*9G>C ENSP00000378336.1:n.*9G>C
ENST00000597263.5:n.397G>C
ENST00000600584.5:n.2661G>C
ENST00000601786.5:n.1513G>C
NM_030662.3:c.*9G>C , LRG_750t1:c.*9G>C NP_109587.1:n.*9G>C
XM_006722799.2:c.*9G>C XP_006722862.1:n.*9G>C
XM_011528133.1:c.*9G>C XP_011526435.1:n.*9G>C
NM_030662.4:c.*9G>C MANE Select NP_109587.1:n.*9G>C