Canonical Allele Identifier: CA2584876545
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090481-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090481C>A , CM000681.2:g.4090481C>A GRCh38
NC_000019.9:g.4090479C>A , CM000681.1:g.4090479C>A GRCh37
NC_000019.8:g.4041479C>A NCBI36
NG_007996.1:g.38648G>T , LRG_750:g.38648G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1759G>T
ENST00000688002.1:n.3471G>T
ENST00000688751.1:n.456G>T
ENST00000689792.1:n.1224G>T
ENST00000262948.10:c.*117G>T MANE Select ENSP00000262948.4:n.*117G>T
ENST00000262948.9:c.*117G>T ENSP00000262948.3:n.*117G>T
ENST00000394867.8:c.*117G>T ENSP00000378336.1:n.*117G>T
ENST00000597263.5:n.505G>T
ENST00000600584.5:n.2769G>T
ENST00000601786.5:n.1621G>T
NM_030662.3:c.*117G>T , LRG_750t1:c.*117G>T NP_109587.1:n.*117G>T
XM_006722799.2:c.*117G>T XP_006722862.1:n.*117G>T
XM_011528133.1:c.*117G>T XP_011526435.1:n.*117G>T
NM_030662.4:c.*117G>T MANE Select NP_109587.1:n.*117G>T
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