Canonical Allele Identifier: CA504984285
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090429-G-T
MyVariant Identifiers: chr19:g.4090427G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090429G>T , CM000681.2:g.4090429G>T GRCh38
NC_000019.9:g.4090427G>T , CM000681.1:g.4090427G>T GRCh37
NC_000019.8:g.4041427G>T NCBI36
NG_007996.1:g.38700C>A , LRG_750:g.38700C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1811C>A
ENST00000688751.1:n.508C>A
ENST00000689792.1:n.1276C>A
ENST00000262948.10:c.*169C>A MANE Select ENSP00000262948.4:n.*169C>A
ENST00000262948.9:c.*169C>A ENSP00000262948.3:n.*169C>A
ENST00000394867.8:c.*169C>A ENSP00000378336.1:n.*169C>A
ENST00000600584.5:n.2821C>A
ENST00000601786.5:n.1673C>A
NM_030662.3:c.*169C>A , LRG_750t1:c.*169C>A NP_109587.1:n.*169C>A
XM_006722799.2:c.*169C>A XP_006722862.1:n.*169C>A
XM_011528133.1:c.*169C>A XP_011526435.1:n.*169C>A
NM_030662.4:c.*169C>A MANE Select NP_109587.1:n.*169C>A
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