Canonical Allele Identifier: CA403380849
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs2040846319
gnomAD v4: 19-4090641-A-G
MyVariant Identifiers: chr19:g.4090639A>G (hg19) chr19:g.4090641A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090641A>G , CM000681.2:g.4090641A>G GRCh38
NC_000019.9:g.4090639A>G , CM000681.1:g.4090639A>G GRCh37
NC_000019.8:g.4041639A>G NCBI36
NG_007996.1:g.38488T>C , LRG_750:g.38488T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1599T>C
ENST00000688002.1:n.3311T>C
ENST00000688751.1:n.296T>C
ENST00000689792.1:n.1064T>C
ENST00000262948.10:c.1160T>C MANE Select ENSP00000262948.4:p.Leu387Pro
ENST00000262948.9:c.1160T>C ENSP00000262948.3:p.Leu387Pro
ENST00000394867.8:c.869T>C ENSP00000378336.1:p.Leu290Pro
ENST00000597263.5:n.345T>C
ENST00000599021.1:c.270T>C
ENST00000600584.5:n.2609T>C
ENST00000601786.5:n.1461T>C
NM_030662.3:c.1160T>C , LRG_750t1:c.1160T>C NP_109587.1:p.Leu387Pro
XM_006722799.2:c.881T>C XP_006722862.1:p.Leu294Pro
XM_011528133.1:c.590T>C XP_011526435.1:p.Leu197Pro
NM_030662.4:c.1160T>C MANE Select NP_109587.1:p.Leu387Pro
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