Canonical Allele Identifier: CA882241193
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs1400570102
gnomAD v3: 19-4090503-G-C
gnomAD v4: 19-4090503-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090503G>C , CM000681.2:g.4090503G>C GRCh38
NC_000019.9:g.4090501G>C , CM000681.1:g.4090501G>C GRCh37
NC_000019.8:g.4041501G>C NCBI36
NG_007996.1:g.38626C>G , LRG_750:g.38626C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000394867.9:n.1737C>G
ENST00000688002.1:n.3449C>G
ENST00000688751.1:n.434C>G
ENST00000689792.1:n.1202C>G
ENST00000262948.10:c.*95C>G MANE Select ENSP00000262948.4:n.*95C>G
ENST00000262948.9:c.*95C>G ENSP00000262948.3:n.*95C>G
ENST00000394867.8:c.*95C>G ENSP00000378336.1:n.*95C>G
ENST00000597263.5:n.483C>G
ENST00000600584.5:n.2747C>G
ENST00000601786.5:n.1599C>G
NM_030662.3:c.*95C>G , LRG_750t1:c.*95C>G NP_109587.1:n.*95C>G
XM_006722799.2:c.*95C>G XP_006722862.1:n.*95C>G
XM_011528133.1:c.*95C>G XP_011526435.1:n.*95C>G
NM_030662.4:c.*95C>G MANE Select NP_109587.1:n.*95C>G