Canonical Allele Identifier: CA992817507
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs2040848294
gnomAD v3: 19-4090852-C-G
gnomAD v4: 19-4090852-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090852C>G , CM000681.2:g.4090852C>G GRCh38
NC_000019.9:g.4090850C>G , CM000681.1:g.4090850C>G GRCh37
NC_000019.8:g.4041850C>G NCBI36
NG_007996.1:g.38277G>C , LRG_750:g.38277G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1532-144G>C
ENST00000688002.1:n.3244-144G>C
ENST00000688751.1:n.229-144G>C
ENST00000689792.1:n.997-144G>C
ENST00000262948.10:c.1093-144G>C MANE Select ENSP00000262948.4:n.1093-144G>C
ENST00000262948.9:c.1093-144G>C ENSP00000262948.3:n.1093-144G>C
ENST00000394867.8:c.802-144G>C ENSP00000378336.1:n.802-144G>C
ENST00000597263.5:n.278-144G>C
ENST00000599021.1:c.203-144G>C
ENST00000600584.5:n.2542-144G>C
ENST00000601786.5:n.1394-144G>C
NM_030662.3:c.1093-144G>C , LRG_750t1:c.1093-144G>C NP_109587.1:n.1093-144G>C
XM_006722799.2:c.814-144G>C XP_006722862.1:n.814-144G>C
XM_011528133.1:c.523-144G>C XP_011526435.1:n.523-144G>C
NM_030662.4:c.1093-144G>C MANE Select NP_109587.1:n.1093-144G>C
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