Canonical Allele Identifier: CA504984324
Gene: MAP2K2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.4090638C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090640C>T , CM000681.2:g.4090640C>T GRCh38
NC_000019.9:g.4090638C>T , CM000681.1:g.4090638C>T GRCh37
NC_000019.8:g.4041638C>T NCBI36
NG_007996.1:g.38489G>A , LRG_750:g.38489G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1600G>A
ENST00000688002.1:n.3312G>A
ENST00000688751.1:n.297G>A
ENST00000689792.1:n.1065G>A
ENST00000262948.10:c.1161G>A MANE Select ENSP00000262948.4:p.Leu387=
ENST00000262948.9:c.1161G>A ENSP00000262948.3:p.Leu387=
ENST00000394867.8:c.870G>A ENSP00000378336.1:p.Leu290=
ENST00000597263.5:n.346G>A
ENST00000599021.1:c.271G>A
ENST00000600584.5:n.2610G>A
ENST00000601786.5:n.1462G>A
NM_030662.3:c.1161G>A , LRG_750t1:c.1161G>A NP_109587.1:p.Leu387=
XM_006722799.2:c.882G>A XP_006722862.1:p.Leu294=
XM_011528133.1:c.591G>A XP_011526435.1:p.Leu197=
NM_030662.4:c.1161G>A MANE Select NP_109587.1:p.Leu387=
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