Canonical Allele Identifier: CA631536983
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs1372094755
gnomAD v2: 19-4090338-T-G
gnomAD v3: 19-4090340-T-G
gnomAD v4: 19-4090340-T-G
MyVariant Identifiers: chr19:g.4090338T>G (hg19) chr19:g.4090340T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090340T>G , CM000681.2:g.4090340T>G GRCh38
NC_000019.9:g.4090338T>G , CM000681.1:g.4090338T>G GRCh37
NC_000019.8:g.4041338T>G NCBI36
NG_007996.1:g.38789A>C , LRG_750:g.38789A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000688751.1:n.597A>C
ENST00000689792.1:n.1365A>C
ENST00000262948.10:c.*258A>C MANE Select ENSP00000262948.4:n.*258A>C
ENST00000262948.9:c.*258A>C ENSP00000262948.3:n.*258A>C
ENST00000394867.8:c.*258A>C ENSP00000378336.1:n.*258A>C
ENST00000600584.5:n.2910A>C
ENST00000601786.5:n.1762A>C
NM_030662.3:c.*258A>C , LRG_750t1:c.*258A>C NP_109587.1:n.*258A>C
XM_006722799.2:c.*258A>C XP_006722862.1:n.*258A>C
XM_011528133.1:c.*258A>C XP_011526435.1:n.*258A>C
NM_030662.4:c.*258A>C MANE Select NP_109587.1:n.*258A>C
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