Canonical Allele Identifier: CA9090691
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1635039
ClinVar RCV Id: RCV002133158
dbSNP Id: rs772111297
ExAC: 19:4090683 G / A
gnomAD v2: 19-4090683-G-A
gnomAD v4: 19-4090685-G-A
MyVariant Identifiers: chr19:g.4090683G>A (hg19) chr19:g.4090685G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090685G>A , CM000681.2:g.4090685G>A GRCh38
NC_000019.9:g.4090683G>A , CM000681.1:g.4090683G>A GRCh37
NC_000019.8:g.4041683G>A NCBI36
NG_007996.1:g.38444C>T , LRG_750:g.38444C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1555C>T
ENST00000688002.1:n.3267C>T
ENST00000688751.1:n.252C>T
ENST00000689792.1:n.1020C>T
ENST00000262948.10:c.1116C>T MANE Select ENSP00000262948.4:p.Ser372=
ENST00000262948.9:c.1116C>T ENSP00000262948.3:p.Ser372=
ENST00000394867.8:c.825C>T ENSP00000378336.1:p.Ser275=
ENST00000597263.5:n.301C>T
ENST00000599021.1:c.226C>T
ENST00000600584.5:n.2565C>T
ENST00000601786.5:n.1417C>T
NM_030662.3:c.1116C>T , LRG_750t1:c.1116C>T NP_109587.1:p.Ser372=
XM_006722799.2:c.837C>T XP_006722862.1:p.Ser279=
XM_011528133.1:c.546C>T XP_011526435.1:p.Ser182=
NM_030662.4:c.1116C>T MANE Select NP_109587.1:p.Ser372=
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