Canonical Allele Identifier: CA2584876717
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090765-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090765G>A , CM000681.2:g.4090765G>A GRCh38
NC_000019.9:g.4090763G>A , CM000681.1:g.4090763G>A GRCh37
NC_000019.8:g.4041763G>A NCBI36
NG_007996.1:g.38364C>T , LRG_750:g.38364C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1532-57C>T
ENST00000688002.1:n.3244-57C>T
ENST00000688751.1:n.229-57C>T
ENST00000689792.1:n.997-57C>T
ENST00000262948.10:c.1093-57C>T MANE Select ENSP00000262948.4:n.1093-57C>T
ENST00000262948.9:c.1093-57C>T ENSP00000262948.3:n.1093-57C>T
ENST00000394867.8:c.802-57C>T ENSP00000378336.1:n.802-57C>T
ENST00000597263.5:n.278-57C>T
ENST00000599021.1:c.203-57C>T
ENST00000600584.5:n.2542-57C>T
ENST00000601786.5:n.1394-57C>T
NM_030662.3:c.1093-57C>T , LRG_750t1:c.1093-57C>T NP_109587.1:n.1093-57C>T
XM_006722799.2:c.814-57C>T XP_006722862.1:n.814-57C>T
XM_011528133.1:c.523-57C>T XP_011526435.1:n.523-57C>T
NM_030662.4:c.1093-57C>T MANE Select NP_109587.1:n.1093-57C>T
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