Canonical Allele Identifier: CA2584876489
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090423-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090423C>A , CM000681.2:g.4090423C>A GRCh38
NC_000019.9:g.4090421C>A , CM000681.1:g.4090421C>A GRCh37
NC_000019.8:g.4041421C>A NCBI36
NG_007996.1:g.38706G>T , LRG_750:g.38706G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1817G>T
ENST00000688751.1:n.514G>T
ENST00000689792.1:n.1282G>T
ENST00000262948.10:c.*175G>T MANE Select ENSP00000262948.4:n.*175G>T
ENST00000262948.9:c.*175G>T ENSP00000262948.3:n.*175G>T
ENST00000394867.8:c.*175G>T ENSP00000378336.1:n.*175G>T
ENST00000600584.5:n.2827G>T
ENST00000601786.5:n.1679G>T
NM_030662.3:c.*175G>T , LRG_750t1:c.*175G>T NP_109587.1:n.*175G>T
XM_006722799.2:c.*175G>T XP_006722862.1:n.*175G>T
XM_011528133.1:c.*175G>T XP_011526435.1:n.*175G>T
NM_030662.4:c.*175G>T MANE Select NP_109587.1:n.*175G>T
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