Canonical Allele Identifier: CA403380932
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs1432471634
gnomAD v4: 19-4090652-C-G
MyVariant Identifiers: chr19:g.4090650C>G (hg19) chr19:g.4090652C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090652C>G , CM000681.2:g.4090652C>G GRCh38
NC_000019.9:g.4090650C>G , CM000681.1:g.4090650C>G GRCh37
NC_000019.8:g.4041650C>G NCBI36
NG_007996.1:g.38477G>C , LRG_750:g.38477G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1588G>C
ENST00000688002.1:n.3300G>C
ENST00000688751.1:n.285G>C
ENST00000689792.1:n.1053G>C
ENST00000262948.10:c.1149G>C MANE Select ENSP00000262948.4:p.Leu383Phe
ENST00000262948.9:c.1149G>C ENSP00000262948.3:p.Leu383Phe
ENST00000394867.8:c.858G>C ENSP00000378336.1:p.Leu286Phe
ENST00000597263.5:n.334G>C
ENST00000599021.1:c.259G>C
ENST00000600584.5:n.2598G>C
ENST00000601786.5:n.1450G>C
NM_030662.3:c.1149G>C , LRG_750t1:c.1149G>C NP_109587.1:p.Leu383Phe
XM_006722799.2:c.870G>C XP_006722862.1:p.Leu290Phe
XM_011528133.1:c.579G>C XP_011526435.1:p.Leu193Phe
NM_030662.4:c.1149G>C MANE Select NP_109587.1:p.Leu383Phe
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