Canonical Allele Identifier: CA2584876543
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090480-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090480C>G , CM000681.2:g.4090480C>G GRCh38
NC_000019.9:g.4090478C>G , CM000681.1:g.4090478C>G GRCh37
NC_000019.8:g.4041478C>G NCBI36
NG_007996.1:g.38649G>C , LRG_750:g.38649G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1760G>C
ENST00000688002.1:n.3472G>C
ENST00000688751.1:n.457G>C
ENST00000689792.1:n.1225G>C
ENST00000262948.10:c.*118G>C MANE Select ENSP00000262948.4:n.*118G>C
ENST00000262948.9:c.*118G>C ENSP00000262948.3:n.*118G>C
ENST00000394867.8:c.*118G>C ENSP00000378336.1:n.*118G>C
ENST00000597263.5:n.506G>C
ENST00000600584.5:n.2770G>C
ENST00000601786.5:n.1622G>C
NM_030662.3:c.*118G>C , LRG_750t1:c.*118G>C NP_109587.1:n.*118G>C
XM_006722799.2:c.*118G>C XP_006722862.1:n.*118G>C
XM_011528133.1:c.*118G>C XP_011526435.1:n.*118G>C
NM_030662.4:c.*118G>C MANE Select NP_109587.1:n.*118G>C