Canonical Allele Identifier: CA403380937
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs1599277931
gnomAD v4: 19-4090654-A-C
MyVariant Identifiers: chr19:g.4090652A>C (hg19) chr19:g.4090654A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090654A>C , CM000681.2:g.4090654A>C GRCh38
NC_000019.9:g.4090652A>C , CM000681.1:g.4090652A>C GRCh37
NC_000019.8:g.4041652A>C NCBI36
NG_007996.1:g.38475T>G , LRG_750:g.38475T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1586T>G
ENST00000688002.1:n.3298T>G
ENST00000688751.1:n.283T>G
ENST00000689792.1:n.1051T>G
ENST00000262948.10:c.1147T>G MANE Select ENSP00000262948.4:p.Leu383Val
ENST00000262948.9:c.1147T>G ENSP00000262948.3:p.Leu383Val
ENST00000394867.8:c.856T>G ENSP00000378336.1:p.Leu286Val
ENST00000597263.5:n.332T>G
ENST00000599021.1:c.257T>G
ENST00000600584.5:n.2596T>G
ENST00000601786.5:n.1448T>G
NM_030662.3:c.1147T>G , LRG_750t1:c.1147T>G NP_109587.1:p.Leu383Val
XM_006722799.2:c.868T>G XP_006722862.1:p.Leu290Val
XM_011528133.1:c.577T>G XP_011526435.1:p.Leu193Val
NM_030662.4:c.1147T>G MANE Select NP_109587.1:p.Leu383Val
Search 100 bp 5'
Search 100 bp 3'