Canonical Allele Identifier: CA403380920
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090650-C-A
MyVariant Identifiers: chr19:g.4090648C>A (hg19) chr19:g.4090650C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090650C>A , CM000681.2:g.4090650C>A GRCh38
NC_000019.9:g.4090648C>A , CM000681.1:g.4090648C>A GRCh37
NC_000019.8:g.4041648C>A NCBI36
NG_007996.1:g.38479G>T , LRG_750:g.38479G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1590G>T
ENST00000688002.1:n.3302G>T
ENST00000688751.1:n.287G>T
ENST00000689792.1:n.1055G>T
ENST00000262948.10:c.1151G>T MANE Select ENSP00000262948.4:p.Cys384Phe
ENST00000262948.9:c.1151G>T ENSP00000262948.3:p.Cys384Phe
ENST00000394867.8:c.860G>T ENSP00000378336.1:p.Cys287Phe
ENST00000597263.5:n.336G>T
ENST00000599021.1:c.261G>T
ENST00000600584.5:n.2600G>T
ENST00000601786.5:n.1452G>T
NM_030662.3:c.1151G>T , LRG_750t1:c.1151G>T NP_109587.1:p.Cys384Phe
XM_006722799.2:c.872G>T XP_006722862.1:p.Cys291Phe
XM_011528133.1:c.581G>T XP_011526435.1:p.Cys194Phe
NM_030662.4:c.1151G>T MANE Select NP_109587.1:p.Cys384Phe
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