Canonical Allele Identifier: CA2584876648
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090573-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090573C>G , CM000681.2:g.4090573C>G GRCh38
NC_000019.9:g.4090571C>G , CM000681.1:g.4090571C>G GRCh37
NC_000019.8:g.4041571C>G NCBI36
NG_007996.1:g.38556G>C , LRG_750:g.38556G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1667G>C
ENST00000688002.1:n.3379G>C
ENST00000688751.1:n.364G>C
ENST00000689792.1:n.1132G>C
ENST00000262948.10:c.*25G>C MANE Select ENSP00000262948.4:n.*25G>C
ENST00000262948.9:c.*25G>C ENSP00000262948.3:n.*25G>C
ENST00000394867.8:c.*25G>C ENSP00000378336.1:n.*25G>C
ENST00000597263.5:n.413G>C
ENST00000600584.5:n.2677G>C
ENST00000601786.5:n.1529G>C
NM_030662.3:c.*25G>C , LRG_750t1:c.*25G>C NP_109587.1:n.*25G>C
XM_006722799.2:c.*25G>C XP_006722862.1:n.*25G>C
XM_011528133.1:c.*25G>C XP_011526435.1:n.*25G>C
NM_030662.4:c.*25G>C MANE Select NP_109587.1:n.*25G>C