Canonical Allele Identifier: CA2584876603
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090526-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090526C>T , CM000681.2:g.4090526C>T GRCh38
NC_000019.9:g.4090524C>T , CM000681.1:g.4090524C>T GRCh37
NC_000019.8:g.4041524C>T NCBI36
NG_007996.1:g.38603G>A , LRG_750:g.38603G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1714G>A
ENST00000688002.1:n.3426G>A
ENST00000688751.1:n.411G>A
ENST00000689792.1:n.1179G>A
ENST00000262948.10:c.*72G>A MANE Select ENSP00000262948.4:n.*72G>A
ENST00000262948.9:c.*72G>A ENSP00000262948.3:n.*72G>A
ENST00000394867.8:c.*72G>A ENSP00000378336.1:n.*72G>A
ENST00000597263.5:n.460G>A
ENST00000600584.5:n.2724G>A
ENST00000601786.5:n.1576G>A
NM_030662.3:c.*72G>A , LRG_750t1:c.*72G>A NP_109587.1:n.*72G>A
XM_006722799.2:c.*72G>A XP_006722862.1:n.*72G>A
XM_011528133.1:c.*72G>A XP_011526435.1:n.*72G>A
NM_030662.4:c.*72G>A MANE Select NP_109587.1:n.*72G>A