Canonical Allele Identifier: CA403381200
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090697-G-T
MyVariant Identifiers: chr19:g.4090695G>T (hg19) chr19:g.4090697G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090697G>T , CM000681.2:g.4090697G>T GRCh38
NC_000019.9:g.4090695G>T , CM000681.1:g.4090695G>T GRCh37
NC_000019.8:g.4041695G>T NCBI36
NG_007996.1:g.38432C>A , LRG_750:g.38432C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1543C>A
ENST00000688002.1:n.3255C>A
ENST00000688751.1:n.240C>A
ENST00000689792.1:n.1008C>A
ENST00000262948.10:c.1104C>A MANE Select ENSP00000262948.4:p.Phe368Leu
ENST00000262948.9:c.1104C>A ENSP00000262948.3:p.Phe368Leu
ENST00000394867.8:c.813C>A ENSP00000378336.1:p.Phe271Leu
ENST00000597263.5:n.289C>A
ENST00000599021.1:c.214C>A
ENST00000600584.5:n.2553C>A
ENST00000601786.5:n.1405C>A
NM_030662.3:c.1104C>A , LRG_750t1:c.1104C>A NP_109587.1:p.Phe368Leu
XM_006722799.2:c.825C>A XP_006722862.1:p.Phe275Leu
XM_011528133.1:c.534C>A XP_011526435.1:p.Phe178Leu
NM_030662.4:c.1104C>A MANE Select NP_109587.1:p.Phe368Leu
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