Canonical Allele Identifier: CA631537048
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs374728969
gnomAD v2: 19-4090582-G-T
gnomAD v3: 19-4090584-G-T
gnomAD v4: 19-4090584-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090584G>T , CM000681.2:g.4090584G>T GRCh38
NC_000019.9:g.4090582G>T , CM000681.1:g.4090582G>T GRCh37
NC_000019.8:g.4041582G>T NCBI36
NG_007996.1:g.38545C>A , LRG_750:g.38545C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000394867.9:n.1656C>A
ENST00000688002.1:n.3368C>A
ENST00000688751.1:n.353C>A
ENST00000689792.1:n.1121C>A
ENST00000262948.10:c.*14C>A MANE Select ENSP00000262948.4:n.*14C>A
ENST00000262948.9:c.*14C>A ENSP00000262948.3:n.*14C>A
ENST00000394867.8:c.*14C>A ENSP00000378336.1:n.*14C>A
ENST00000597263.5:n.402C>A
ENST00000600584.5:n.2666C>A
ENST00000601786.5:n.1518C>A
NM_030662.3:c.*14C>A , LRG_750t1:c.*14C>A NP_109587.1:n.*14C>A
XM_006722799.2:c.*14C>A XP_006722862.1:n.*14C>A
XM_011528133.1:c.*14C>A XP_011526435.1:n.*14C>A
NM_030662.4:c.*14C>A MANE Select NP_109587.1:n.*14C>A