Canonical Allele Identifier: CA2584876437
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090379-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090379A>G , CM000681.2:g.4090379A>G GRCh38
NC_000019.9:g.4090377A>G , CM000681.1:g.4090377A>G GRCh37
NC_000019.8:g.4041377A>G NCBI36
NG_007996.1:g.38750T>C , LRG_750:g.38750T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1861T>C
ENST00000688751.1:n.558T>C
ENST00000689792.1:n.1326T>C
ENST00000262948.10:c.*219T>C MANE Select ENSP00000262948.4:n.*219T>C
ENST00000262948.9:c.*219T>C ENSP00000262948.3:n.*219T>C
ENST00000394867.8:c.*219T>C ENSP00000378336.1:n.*219T>C
ENST00000600584.5:n.2871T>C
ENST00000601786.5:n.1723T>C
NM_030662.3:c.*219T>C , LRG_750t1:c.*219T>C NP_109587.1:n.*219T>C
XM_006722799.2:c.*219T>C XP_006722862.1:n.*219T>C
XM_011528133.1:c.*219T>C XP_011526435.1:n.*219T>C
NM_030662.4:c.*219T>C MANE Select NP_109587.1:n.*219T>C
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