Canonical Allele Identifier: CA2584876539
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090475-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090475G>A , CM000681.2:g.4090475G>A GRCh38
NC_000019.9:g.4090473G>A , CM000681.1:g.4090473G>A GRCh37
NC_000019.8:g.4041473G>A NCBI36
NG_007996.1:g.38654C>T , LRG_750:g.38654C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1765C>T
ENST00000688002.1:n.3477C>T
ENST00000688751.1:n.462C>T
ENST00000689792.1:n.1230C>T
ENST00000262948.10:c.*123C>T MANE Select ENSP00000262948.4:n.*123C>T
ENST00000262948.9:c.*123C>T ENSP00000262948.3:n.*123C>T
ENST00000394867.8:c.*123C>T ENSP00000378336.1:n.*123C>T
ENST00000597263.5:n.511C>T
ENST00000600584.5:n.2775C>T
ENST00000601786.5:n.1627C>T
NM_030662.3:c.*123C>T , LRG_750t1:c.*123C>T NP_109587.1:n.*123C>T
XM_006722799.2:c.*123C>T XP_006722862.1:n.*123C>T
XM_011528133.1:c.*123C>T XP_011526435.1:n.*123C>T
NM_030662.4:c.*123C>T MANE Select NP_109587.1:n.*123C>T
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