Canonical Allele Identifier: CA2584876715
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090764-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090764A>C , CM000681.2:g.4090764A>C GRCh38
NC_000019.9:g.4090762A>C , CM000681.1:g.4090762A>C GRCh37
NC_000019.8:g.4041762A>C NCBI36
NG_007996.1:g.38365T>G , LRG_750:g.38365T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1532-56T>G
ENST00000688002.1:n.3244-56T>G
ENST00000688751.1:n.229-56T>G
ENST00000689792.1:n.997-56T>G
ENST00000262948.10:c.1093-56T>G MANE Select ENSP00000262948.4:n.1093-56T>G
ENST00000262948.9:c.1093-56T>G ENSP00000262948.3:n.1093-56T>G
ENST00000394867.8:c.802-56T>G ENSP00000378336.1:n.802-56T>G
ENST00000597263.5:n.278-56T>G
ENST00000599021.1:c.203-56T>G
ENST00000600584.5:n.2542-56T>G
ENST00000601786.5:n.1394-56T>G
NM_030662.3:c.1093-56T>G , LRG_750t1:c.1093-56T>G NP_109587.1:n.1093-56T>G
XM_006722799.2:c.814-56T>G XP_006722862.1:n.814-56T>G
XM_011528133.1:c.523-56T>G XP_011526435.1:n.523-56T>G
NM_030662.4:c.1093-56T>G MANE Select NP_109587.1:n.1093-56T>G
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