Canonical Allele Identifier: CA504984329
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090649-A-G
MyVariant Identifiers: chr19:g.4090647A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090649A>G , CM000681.2:g.4090649A>G GRCh38
NC_000019.9:g.4090647A>G , CM000681.1:g.4090647A>G GRCh37
NC_000019.8:g.4041647A>G NCBI36
NG_007996.1:g.38480T>C , LRG_750:g.38480T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1591T>C
ENST00000688002.1:n.3303T>C
ENST00000688751.1:n.288T>C
ENST00000689792.1:n.1056T>C
ENST00000262948.10:c.1152T>C MANE Select ENSP00000262948.4:p.Cys384=
ENST00000262948.9:c.1152T>C ENSP00000262948.3:p.Cys384=
ENST00000394867.8:c.861T>C ENSP00000378336.1:p.Cys287=
ENST00000597263.5:n.337T>C
ENST00000599021.1:c.262T>C
ENST00000600584.5:n.2601T>C
ENST00000601786.5:n.1453T>C
NM_030662.3:c.1152T>C , LRG_750t1:c.1152T>C NP_109587.1:p.Cys384=
XM_006722799.2:c.873T>C XP_006722862.1:p.Cys291=
XM_011528133.1:c.582T>C XP_011526435.1:p.Cys194=
NM_030662.4:c.1152T>C MANE Select NP_109587.1:p.Cys384=
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