Canonical Allele Identifier: CA504987494
Gene: MAP2K2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.4110567G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4110569G>T , CM000681.2:g.4110569G>T GRCh38
NC_000019.9:g.4110567G>T , CM000681.1:g.4110567G>T GRCh37
NC_000019.8:g.4061567G>T NCBI36
NG_007996.1:g.18560C>A , LRG_750:g.18560C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.829C>A
ENST00000687128.1:n.829C>A
ENST00000262948.10:c.390C>A MANE Select ENSP00000262948.4:p.Ile130=
ENST00000262948.9:c.390C>A ENSP00000262948.3:p.Ile130=
ENST00000394867.8:c.99C>A ENSP00000378336.1:p.Ile33=
ENST00000599345.1:n.587C>A
NM_030662.3:c.390C>A , LRG_750t1:c.390C>A NP_109587.1:p.Ile130=
XM_006722799.2:c.390C>A XP_006722862.1:p.Ile130=
XM_017026989.1:c.390C>A XP_016882478.1:p.Ile130=
XM_017026990.1:c.390C>A XP_016882479.1:p.Ile130=
XM_017026991.1:c.390C>A XP_016882480.1:p.Ile130=
NM_030662.4:c.390C>A MANE Select NP_109587.1:p.Ile130=