Canonical Allele Identifier: CA403380696
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090618-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090618G>C , CM000681.2:g.4090618G>C GRCh38
NC_000019.9:g.4090616G>C , CM000681.1:g.4090616G>C GRCh37
NC_000019.8:g.4041616G>C NCBI36
NG_007996.1:g.38511C>G , LRG_750:g.38511C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1622C>G
ENST00000688002.1:n.3334C>G
ENST00000688751.1:n.319C>G
ENST00000689792.1:n.1087C>G
ENST00000262948.10:c.1183C>G MANE Select ENSP00000262948.4:p.Pro395Ala
ENST00000262948.9:c.1183C>G ENSP00000262948.3:p.Pro395Ala
ENST00000394867.8:c.892C>G ENSP00000378336.1:p.Pro298Ala
ENST00000597263.5:n.368C>G
ENST00000599021.1:c.293C>G
ENST00000600584.5:n.2632C>G
ENST00000601786.5:n.1484C>G
NM_030662.3:c.1183C>G , LRG_750t1:c.1183C>G NP_109587.1:p.Pro395Ala
XM_006722799.2:c.904C>G XP_006722862.1:p.Pro302Ala
XM_011528133.1:c.613C>G XP_011526435.1:p.Pro205Ala
NM_030662.4:c.1183C>G MANE Select NP_109587.1:p.Pro395Ala