Canonical Allele Identifier: CA992817273
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs2040843946
gnomAD v3: 19-4090458-T-G
gnomAD v4: 19-4090458-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090458T>G , CM000681.2:g.4090458T>G GRCh38
NC_000019.9:g.4090456T>G , CM000681.1:g.4090456T>G GRCh37
NC_000019.8:g.4041456T>G NCBI36
NG_007996.1:g.38671A>C , LRG_750:g.38671A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1782A>C
ENST00000688751.1:n.479A>C
ENST00000689792.1:n.1247A>C
ENST00000262948.10:c.*140A>C MANE Select ENSP00000262948.4:n.*140A>C
ENST00000262948.9:c.*140A>C ENSP00000262948.3:n.*140A>C
ENST00000394867.8:c.*140A>C ENSP00000378336.1:n.*140A>C
ENST00000597263.5:n.528A>C
ENST00000600584.5:n.2792A>C
ENST00000601786.5:n.1644A>C
NM_030662.3:c.*140A>C , LRG_750t1:c.*140A>C NP_109587.1:n.*140A>C
XM_006722799.2:c.*140A>C XP_006722862.1:n.*140A>C
XM_011528133.1:c.*140A>C XP_011526435.1:n.*140A>C
NM_030662.4:c.*140A>C MANE Select NP_109587.1:n.*140A>C
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