Canonical Allele Identifier: CA2319219596
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs1599277500
gnomAD v4: 19-4090397-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090397C>T , CM000681.2:g.4090397C>T GRCh38
NC_000019.9:g.4090395C>T , CM000681.1:g.4090395C>T GRCh37
NC_000019.8:g.4041395C>T NCBI36
NG_007996.1:g.38732G>A , LRG_750:g.38732G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1843G>A
ENST00000688751.1:n.540G>A
ENST00000689792.1:n.1308G>A
ENST00000262948.10:c.*201G>A MANE Select ENSP00000262948.4:n.*201G>A
ENST00000262948.9:c.*201G>A ENSP00000262948.3:n.*201G>A
ENST00000394867.8:c.*201G>A ENSP00000378336.1:n.*201G>A
ENST00000600584.5:n.2853G>A
ENST00000601786.5:n.1705G>A
NM_030662.3:c.*201G>A , LRG_750t1:c.*201G>A NP_109587.1:n.*201G>A
XM_006722799.2:c.*201G>A XP_006722862.1:n.*201G>A
XM_011528133.1:c.*201G>A XP_011526435.1:n.*201G>A
NM_030662.4:c.*201G>A MANE Select NP_109587.1:n.*201G>A
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