Canonical Allele Identifier: CA9090677
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 388412
dbSNP Id: rs377441764
gnomAD v2: 19-4090576-C-T
gnomAD v3: 19-4090578-C-T
gnomAD v4: 19-4090578-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090578C>T , CM000681.2:g.4090578C>T GRCh38
NC_000019.9:g.4090576C>T , CM000681.1:g.4090576C>T GRCh37
NC_000019.8:g.4041576C>T NCBI36
NG_007996.1:g.38551G>A , LRG_750:g.38551G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1662G>A
ENST00000688002.1:n.3374G>A
ENST00000688751.1:n.359G>A
ENST00000689792.1:n.1127G>A
ENST00000262948.10:c.*20G>A MANE Select ENSP00000262948.4:n.*20G>A
ENST00000262948.9:c.*20G>A ENSP00000262948.3:n.*20G>A
ENST00000394867.8:c.*20G>A ENSP00000378336.1:n.*20G>A
ENST00000597263.5:n.408G>A
ENST00000600584.5:n.2672G>A
ENST00000601786.5:n.1524G>A
NM_030662.3:c.*20G>A , LRG_750t1:c.*20G>A NP_109587.1:n.*20G>A
XM_006722799.2:c.*20G>A XP_006722862.1:n.*20G>A
XM_011528133.1:c.*20G>A XP_011526435.1:n.*20G>A
NM_030662.4:c.*20G>A MANE Select NP_109587.1:n.*20G>A