Canonical Allele Identifier: CA403381122
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090686-G-A
COSMIC: COSM4459192 COSM4459193
MyVariant Identifiers: chr19:g.4090684G>A (hg19) chr19:g.4090686G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090686G>A , CM000681.2:g.4090686G>A GRCh38
NC_000019.9:g.4090684G>A , CM000681.1:g.4090684G>A GRCh37
NC_000019.8:g.4041684G>A NCBI36
NG_007996.1:g.38443C>T , LRG_750:g.38443C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1554C>T
ENST00000688002.1:n.3266C>T
ENST00000688751.1:n.251C>T
ENST00000689792.1:n.1019C>T
ENST00000262948.10:c.1115C>T MANE Select ENSP00000262948.4:p.Ser372Phe
ENST00000262948.9:c.1115C>T ENSP00000262948.3:p.Ser372Phe
ENST00000394867.8:c.824C>T ENSP00000378336.1:p.Ser275Phe
ENST00000597263.5:n.300C>T
ENST00000599021.1:c.225C>T
ENST00000600584.5:n.2564C>T
ENST00000601786.5:n.1416C>T
NM_030662.3:c.1115C>T , LRG_750t1:c.1115C>T NP_109587.1:p.Ser372Phe
XM_006722799.2:c.836C>T XP_006722862.1:p.Ser279Phe
XM_011528133.1:c.545C>T XP_011526435.1:p.Ser182Phe
NM_030662.4:c.1115C>T MANE Select NP_109587.1:p.Ser372Phe
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