Canonical Allele Identifier: CA992817333
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs2040845330
gnomAD v3: 19-4090581-A-G
gnomAD v4: 19-4090581-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090581A>G , CM000681.2:g.4090581A>G GRCh38
NC_000019.9:g.4090579A>G , CM000681.1:g.4090579A>G GRCh37
NC_000019.8:g.4041579A>G NCBI36
NG_007996.1:g.38548T>C , LRG_750:g.38548T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1659T>C
ENST00000688002.1:n.3371T>C
ENST00000688751.1:n.356T>C
ENST00000689792.1:n.1124T>C
ENST00000262948.10:c.*17T>C MANE Select ENSP00000262948.4:n.*17T>C
ENST00000262948.9:c.*17T>C ENSP00000262948.3:n.*17T>C
ENST00000394867.8:c.*17T>C ENSP00000378336.1:n.*17T>C
ENST00000597263.5:n.405T>C
ENST00000600584.5:n.2669T>C
ENST00000601786.5:n.1521T>C
NM_030662.3:c.*17T>C , LRG_750t1:c.*17T>C NP_109587.1:n.*17T>C
XM_006722799.2:c.*17T>C XP_006722862.1:n.*17T>C
XM_011528133.1:c.*17T>C XP_011526435.1:n.*17T>C
NM_030662.4:c.*17T>C MANE Select NP_109587.1:n.*17T>C
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