Canonical Allele Identifier: CA2584876645
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090570-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090570C>T , CM000681.2:g.4090570C>T GRCh38
NC_000019.9:g.4090568C>T , CM000681.1:g.4090568C>T GRCh37
NC_000019.8:g.4041568C>T NCBI36
NG_007996.1:g.38559G>A , LRG_750:g.38559G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1670G>A
ENST00000688002.1:n.3382G>A
ENST00000688751.1:n.367G>A
ENST00000689792.1:n.1135G>A
ENST00000262948.10:c.*28G>A MANE Select ENSP00000262948.4:n.*28G>A
ENST00000262948.9:c.*28G>A ENSP00000262948.3:n.*28G>A
ENST00000394867.8:c.*28G>A ENSP00000378336.1:n.*28G>A
ENST00000597263.5:n.416G>A
ENST00000600584.5:n.2680G>A
ENST00000601786.5:n.1532G>A
NM_030662.3:c.*28G>A , LRG_750t1:c.*28G>A NP_109587.1:n.*28G>A
XM_006722799.2:c.*28G>A XP_006722862.1:n.*28G>A
XM_011528133.1:c.*28G>A XP_011526435.1:n.*28G>A
NM_030662.4:c.*28G>A MANE Select NP_109587.1:n.*28G>A