Canonical Allele Identifier: CA9090687
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 837895
ClinVar RCV Id: RCV001193485 RCV001039331
dbSNP Id: rs755887476
ExAC: 19:4090622 C / T
gnomAD v2: 19-4090622-C-T
gnomAD v3: 19-4090624-C-T
gnomAD v4: 19-4090624-C-T
MyVariant Identifiers: chr19:g.4090622C>T (hg19) chr19:g.4090624C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090624C>T , CM000681.2:g.4090624C>T GRCh38
NC_000019.9:g.4090622C>T , CM000681.1:g.4090622C>T GRCh37
NC_000019.8:g.4041622C>T NCBI36
NG_007996.1:g.38505G>A , LRG_750:g.38505G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1616G>A
ENST00000688002.1:n.3328G>A
ENST00000688751.1:n.313G>A
ENST00000689792.1:n.1081G>A
ENST00000262948.10:c.1177G>A MANE Select ENSP00000262948.4:p.Gly393Ser
ENST00000262948.9:c.1177G>A ENSP00000262948.3:p.Gly393Ser
ENST00000394867.8:c.886G>A ENSP00000378336.1:p.Gly296Ser
ENST00000597263.5:n.362G>A
ENST00000599021.1:c.287G>A
ENST00000600584.5:n.2626G>A
ENST00000601786.5:n.1478G>A
NM_030662.3:c.1177G>A , LRG_750t1:c.1177G>A NP_109587.1:p.Gly393Ser
XM_006722799.2:c.898G>A XP_006722862.1:p.Gly300Ser
XM_011528133.1:c.607G>A XP_011526435.1:p.Gly203Ser
NM_030662.4:c.1177G>A MANE Select NP_109587.1:p.Gly393Ser
Search 100 bp 5'
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