Canonical Allele Identifier: CA2584876723
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090768-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090768C>A , CM000681.2:g.4090768C>A GRCh38
NC_000019.9:g.4090766C>A , CM000681.1:g.4090766C>A GRCh37
NC_000019.8:g.4041766C>A NCBI36
NG_007996.1:g.38361G>T , LRG_750:g.38361G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1532-60G>T
ENST00000688002.1:n.3244-60G>T
ENST00000688751.1:n.229-60G>T
ENST00000689792.1:n.997-60G>T
ENST00000262948.10:c.1093-60G>T MANE Select ENSP00000262948.4:n.1093-60G>T
ENST00000262948.9:c.1093-60G>T ENSP00000262948.3:n.1093-60G>T
ENST00000394867.8:c.802-60G>T ENSP00000378336.1:n.802-60G>T
ENST00000597263.5:n.278-60G>T
ENST00000599021.1:c.203-60G>T
ENST00000600584.5:n.2542-60G>T
ENST00000601786.5:n.1394-60G>T
NM_030662.3:c.1093-60G>T , LRG_750t1:c.1093-60G>T NP_109587.1:n.1093-60G>T
XM_006722799.2:c.814-60G>T XP_006722862.1:n.814-60G>T
XM_011528133.1:c.523-60G>T XP_011526435.1:n.523-60G>T
NM_030662.4:c.1093-60G>T MANE Select NP_109587.1:n.1093-60G>T
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