Canonical Allele Identifier: CA992817519
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs2040848546
gnomAD v3: 19-4090868-G-A
gnomAD v4: 19-4090868-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090868G>A , CM000681.2:g.4090868G>A GRCh38
NC_000019.9:g.4090866G>A , CM000681.1:g.4090866G>A GRCh37
NC_000019.8:g.4041866G>A NCBI36
NG_007996.1:g.38261C>T , LRG_750:g.38261C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1532-160C>T
ENST00000688002.1:n.3244-160C>T
ENST00000688751.1:n.229-160C>T
ENST00000689792.1:n.997-160C>T
ENST00000262948.10:c.1093-160C>T MANE Select ENSP00000262948.4:n.1093-160C>T
ENST00000262948.9:c.1093-160C>T ENSP00000262948.3:n.1093-160C>T
ENST00000394867.8:c.802-160C>T ENSP00000378336.1:n.802-160C>T
ENST00000597263.5:n.278-160C>T
ENST00000599021.1:c.203-160C>T
ENST00000600584.5:n.2542-160C>T
ENST00000601786.5:n.1394-160C>T
NM_030662.3:c.1093-160C>T , LRG_750t1:c.1093-160C>T NP_109587.1:n.1093-160C>T
XM_006722799.2:c.814-160C>T XP_006722862.1:n.814-160C>T
XM_011528133.1:c.523-160C>T XP_011526435.1:n.523-160C>T
NM_030662.4:c.1093-160C>T MANE Select NP_109587.1:n.1093-160C>T
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