Canonical Allele Identifier: CA882241156
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs1381599019
gnomAD v4: 19-4090347-T-G
MyVariant Identifiers: chr19:g.4090345T>G (hg19) chr19:g.4090347T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090347T>G , CM000681.2:g.4090347T>G GRCh38
NC_000019.9:g.4090345T>G , CM000681.1:g.4090345T>G GRCh37
NC_000019.8:g.4041345T>G NCBI36
NG_007996.1:g.38782A>C , LRG_750:g.38782A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1893A>C
ENST00000688751.1:n.590A>C
ENST00000689792.1:n.1358A>C
ENST00000262948.10:c.*251A>C MANE Select ENSP00000262948.4:n.*251A>C
ENST00000262948.9:c.*251A>C ENSP00000262948.3:n.*251A>C
ENST00000394867.8:c.*251A>C ENSP00000378336.1:n.*251A>C
ENST00000600584.5:n.2903A>C
ENST00000601786.5:n.1755A>C
NM_030662.3:c.*251A>C , LRG_750t1:c.*251A>C NP_109587.1:n.*251A>C
XM_006722799.2:c.*251A>C XP_006722862.1:n.*251A>C
XM_011528133.1:c.*251A>C XP_011526435.1:n.*251A>C
NM_030662.4:c.*251A>C MANE Select NP_109587.1:n.*251A>C
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