Canonical Allele Identifier: CA137943
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 46237
ClinVar RCV Id: RCV000039484 RCV000149845 RCV000509111 RCV001001539 RCV002326747
dbSNP Id: rs17851657
ExAC: 19:4102449 G / A
gnomAD v2: 19-4102449-G-A
gnomAD v3: 19-4102451-G-A
gnomAD v4: 19-4102451-G-A
MyVariant Identifiers: chr19:g.4102449G>A (hg19) chr19:g.4102451G>A (hg38)
ERepo: CA137943/MONDO:0021060/004
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4102451G>A , CM000681.2:g.4102451G>A GRCh38
NC_000019.9:g.4102449G>A , CM000681.1:g.4102449G>A GRCh37
NC_000019.8:g.4053449G>A NCBI36
NG_007996.1:g.26678C>T , LRG_750:g.26678C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.892C>T
ENST00000687128.1:n.892C>T
ENST00000689792.1:n.393C>T
ENST00000262948.10:c.453C>T MANE Select ENSP00000262948.4:p.Asp151=
ENST00000262948.9:c.453C>T ENSP00000262948.3:p.Asp151=
ENST00000394867.8:c.162C>T ENSP00000378336.1:p.Asp54=
ENST00000593364.5:n.400C>T
ENST00000597008.5:n.54C>T
ENST00000599345.1:n.723C>T
ENST00000601786.5:n.754C>T
ENST00000602167.5:n.173C>T
NM_030662.3:c.453C>T , LRG_750t1:c.453C>T NP_109587.1:p.Asp151=
XM_006722799.2:c.453C>T XP_006722862.1:p.Asp151=
XM_011528133.1:c.-118C>T XP_011526435.1:n.-118C>T
XM_017026989.1:c.453C>T XP_016882478.1:p.Asp151=
XM_017026990.1:c.453C>T XP_016882479.1:p.Asp151=
XM_017026991.1:c.453C>T XP_016882480.1:p.Asp151=
NM_030662.4:c.453C>T MANE Select NP_109587.1:p.Asp151=
Search 100 bp 5'
Search 100 bp 3'