Canonical Allele Identifier: CA2584876465
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090404-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090404A>G , CM000681.2:g.4090404A>G GRCh38
NC_000019.9:g.4090402A>G , CM000681.1:g.4090402A>G GRCh37
NC_000019.8:g.4041402A>G NCBI36
NG_007996.1:g.38725T>C , LRG_750:g.38725T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1836T>C
ENST00000688751.1:n.533T>C
ENST00000689792.1:n.1301T>C
ENST00000262948.10:c.*194T>C MANE Select ENSP00000262948.4:n.*194T>C
ENST00000262948.9:c.*194T>C ENSP00000262948.3:n.*194T>C
ENST00000394867.8:c.*194T>C ENSP00000378336.1:n.*194T>C
ENST00000600584.5:n.2846T>C
ENST00000601786.5:n.1698T>C
NM_030662.3:c.*194T>C , LRG_750t1:c.*194T>C NP_109587.1:n.*194T>C
XM_006722799.2:c.*194T>C XP_006722862.1:n.*194T>C
XM_011528133.1:c.*194T>C XP_011526435.1:n.*194T>C
NM_030662.4:c.*194T>C MANE Select NP_109587.1:n.*194T>C
Search 100 bp 5'
Search 100 bp 3'