Canonical Allele Identifier: CA2584876775
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090835-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090835C>T , CM000681.2:g.4090835C>T GRCh38
NC_000019.9:g.4090833C>T , CM000681.1:g.4090833C>T GRCh37
NC_000019.8:g.4041833C>T NCBI36
NG_007996.1:g.38294G>A , LRG_750:g.38294G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1532-127G>A
ENST00000688002.1:n.3244-127G>A
ENST00000688751.1:n.229-127G>A
ENST00000689792.1:n.997-127G>A
ENST00000262948.10:c.1093-127G>A MANE Select ENSP00000262948.4:n.1093-127G>A
ENST00000262948.9:c.1093-127G>A ENSP00000262948.3:n.1093-127G>A
ENST00000394867.8:c.802-127G>A ENSP00000378336.1:n.802-127G>A
ENST00000597263.5:n.278-127G>A
ENST00000599021.1:c.203-127G>A
ENST00000600584.5:n.2542-127G>A
ENST00000601786.5:n.1394-127G>A
NM_030662.3:c.1093-127G>A , LRG_750t1:c.1093-127G>A NP_109587.1:n.1093-127G>A
XM_006722799.2:c.814-127G>A XP_006722862.1:n.814-127G>A
XM_011528133.1:c.523-127G>A XP_011526435.1:n.523-127G>A
NM_030662.4:c.1093-127G>A MANE Select NP_109587.1:n.1093-127G>A
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