Canonical Allele Identifier: CA9091061
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 40788
ClinVar RCV Id: RCV000285952 RCV002513331 RCV003488354
dbSNP Id: rs200918323
ExAC: 19:4117429 G / C
gnomAD v2: 19-4117429-G-C
gnomAD v3: 19-4117431-G-C
gnomAD v4: 19-4117431-G-C
MyVariant Identifiers: chr19:g.4117429G>C (hg19) chr19:g.4117431G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4117431G>C , CM000681.2:g.4117431G>C GRCh38
NC_000019.9:g.4117429G>C , CM000681.1:g.4117429G>C GRCh37
NC_000019.8:g.4068429G>C NCBI36
NG_007996.1:g.11698C>G , LRG_750:g.11698C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.730C>G
ENST00000687128.1:n.730C>G
ENST00000262948.10:c.291C>G MANE Select ENSP00000262948.4:p.Ile97Met
ENST00000262948.9:c.291C>G ENSP00000262948.3:p.Ile97Met
ENST00000394867.8:c.-1C>G ENSP00000378336.1:n.-1C>G
ENST00000599345.1:n.488C>G
NM_030662.3:c.291C>G , LRG_750t1:c.291C>G NP_109587.1:p.Ile97Met
XM_006722799.2:c.291C>G XP_006722862.1:p.Ile97Met
XM_017026989.1:c.291C>G XP_016882478.1:p.Ile97Met
XM_017026990.1:c.291C>G XP_016882479.1:p.Ile97Met
XM_017026991.1:c.291C>G XP_016882480.1:p.Ile97Met
NM_030662.4:c.291C>G MANE Select NP_109587.1:p.Ile97Met
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