Canonical Allele Identifier: CA9090914
Gene: MAP2K2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.4101294C>T
GRCh37 chr19:g.4101292C>T
gnomAD v2:
19:4101292 C / T
gnomAD v3:
19:4101294 C / T
gnomAD v4:
chr19-4101294-C-T
Joint Max Group AF 0.00005869 (MID)
Genomes Max Group AF 0.00001973 (NFE)
Exomes Max Group AF 0.00006167 (MID)
ClinVar RCV:
RCV000429940
RCV002061579
ClinVar Variation:
378976
dbSNP:
756414078
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4101294C>T , CM000681.2:g.4101294C>T GRCh38
NC_000019.9:g.4101292C>T , CM000681.1:g.4101292C>T GRCh37
NC_000019.8:g.4052292C>T NCBI36
NG_007996.1:g.27835G>A , LRG_750:g.27835G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.968-14G>A
ENST00000687128.1:n.968-14G>A
ENST00000689792.1:n.469-14G>A
ENST00000262948.10:c.529-14G>A MANE Select ENSP00000262948.4:n.529-14G>A
ENST00000262948.9:c.529-14G>A ENSP00000262948.3:n.529-14G>A
ENST00000394867.8:c.238-14G>A ENSP00000378336.1:n.238-14G>A
ENST00000593364.5:n.476-14G>A
ENST00000597008.5:n.130-14G>A
ENST00000599345.1:n.799-14G>A
ENST00000601786.5:n.830-14G>A
ENST00000602167.5:n.249-14G>A
NM_030662.3:c.529-14G>A , LRG_750t1:c.529-14G>A NP_109587.1:n.529-14G>A
XM_006722799.2:c.529-14G>A XP_006722862.1:n.529-14G>A
XM_011528133.1:c.-42-14G>A XP_011526435.1:n.-42-14G>A
XM_017026989.1:c.529-14G>A XP_016882478.1:n.529-14G>A
XM_017026990.1:c.529-14G>A XP_016882479.1:n.529-14G>A
XM_017026991.1:c.529-14G>A XP_016882480.1:n.529-14G>A
NM_030662.4:c.529-14G>A MANE Select NP_109587.1:n.529-14G>A
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