Canonical Allele Identifier: CA403381126
Gene: MAP2K2 HGNC NCBI

Linked Data

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

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1554C>A
ENST00000688002.1:n.3266C>A
ENST00000688751.1:n.251C>A
ENST00000689792.1:n.1019C>A
ENST00000262948.10:c.1115C>A MANE Select ENSP00000262948.4:p.Ser372Tyr
ENST00000262948.9:c.1115C>A ENSP00000262948.3:p.Ser372Tyr
ENST00000394867.8:c.824C>A ENSP00000378336.1:p.Ser275Tyr
ENST00000597263.5:n.300C>A
ENST00000599021.1:c.225C>A
ENST00000600584.5:n.2564C>A
ENST00000601786.5:n.1416C>A
NM_030662.3:c.1115C>A , LRG_750t1:c.1115C>A NP_109587.1:p.Ser372Tyr
XM_006722799.2:c.836C>A XP_006722862.1:p.Ser279Tyr
XM_011528133.1:c.545C>A XP_011526435.1:p.Ser182Tyr
NM_030662.4:c.1115C>A MANE Select NP_109587.1:p.Ser372Tyr
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