Canonical Allele Identifier: CA2584876676
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090716-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090716G>A , CM000681.2:g.4090716G>A GRCh38
NC_000019.9:g.4090714G>A , CM000681.1:g.4090714G>A GRCh37
NC_000019.8:g.4041714G>A NCBI36
NG_007996.1:g.38413C>T , LRG_750:g.38413C>T

Transcript Alleles

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