Canonical Allele Identifier: CA2584876556
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090491-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090491A>G , CM000681.2:g.4090491A>G GRCh38
NC_000019.9:g.4090489A>G , CM000681.1:g.4090489A>G GRCh37
NC_000019.8:g.4041489A>G NCBI36
NG_007996.1:g.38638T>C , LRG_750:g.38638T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000394867.9:n.1749T>C
ENST00000688002.1:n.3461T>C
ENST00000688751.1:n.446T>C
ENST00000689792.1:n.1214T>C
ENST00000262948.10:c.*107T>C MANE Select ENSP00000262948.4:n.*107T>C
ENST00000262948.9:c.*107T>C ENSP00000262948.3:n.*107T>C
ENST00000394867.8:c.*107T>C ENSP00000378336.1:n.*107T>C
ENST00000597263.5:n.495T>C
ENST00000600584.5:n.2759T>C
ENST00000601786.5:n.1611T>C
NM_030662.3:c.*107T>C , LRG_750t1:c.*107T>C NP_109587.1:n.*107T>C
XM_006722799.2:c.*107T>C XP_006722862.1:n.*107T>C
XM_011528133.1:c.*107T>C XP_011526435.1:n.*107T>C
NM_030662.4:c.*107T>C MANE Select NP_109587.1:n.*107T>C