Canonical Allele Identifier: CA631537021
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs1439580305
gnomAD v2: 19-4090560-C-T
gnomAD v3: 19-4090562-C-T
gnomAD v4: 19-4090562-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090562C>T , CM000681.2:g.4090562C>T GRCh38
NC_000019.9:g.4090560C>T , CM000681.1:g.4090560C>T GRCh37
NC_000019.8:g.4041560C>T NCBI36
NG_007996.1:g.38567G>A , LRG_750:g.38567G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1678G>A
ENST00000688002.1:n.3390G>A
ENST00000688751.1:n.375G>A
ENST00000689792.1:n.1143G>A
ENST00000262948.10:c.*36G>A MANE Select ENSP00000262948.4:n.*36G>A
ENST00000262948.9:c.*36G>A ENSP00000262948.3:n.*36G>A
ENST00000394867.8:c.*36G>A ENSP00000378336.1:n.*36G>A
ENST00000597263.5:n.424G>A
ENST00000600584.5:n.2688G>A
ENST00000601786.5:n.1540G>A
NM_030662.3:c.*36G>A , LRG_750t1:c.*36G>A NP_109587.1:n.*36G>A
XM_006722799.2:c.*36G>A XP_006722862.1:n.*36G>A
XM_011528133.1:c.*36G>A XP_011526435.1:n.*36G>A
NM_030662.4:c.*36G>A MANE Select NP_109587.1:n.*36G>A