Canonical Allele Identifier: CA504984300
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090613-C-G
MyVariant Identifiers: chr19:g.4090611C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090613C>G , CM000681.2:g.4090613C>G GRCh38
NC_000019.9:g.4090611C>G , CM000681.1:g.4090611C>G GRCh37
NC_000019.8:g.4041611C>G NCBI36
NG_007996.1:g.38516G>C , LRG_750:g.38516G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1627G>C
ENST00000688002.1:n.3339G>C
ENST00000688751.1:n.324G>C
ENST00000689792.1:n.1092G>C
ENST00000262948.10:c.1188G>C MANE Select ENSP00000262948.4:p.Thr396=
ENST00000262948.9:c.1188G>C ENSP00000262948.3:p.Thr396=
ENST00000394867.8:c.897G>C ENSP00000378336.1:p.Thr299=
ENST00000597263.5:n.373G>C
ENST00000599021.1:c.298G>C
ENST00000600584.5:n.2637G>C
ENST00000601786.5:n.1489G>C
NM_030662.3:c.1188G>C , LRG_750t1:c.1188G>C NP_109587.1:p.Thr396=
XM_006722799.2:c.909G>C XP_006722862.1:p.Thr303=
XM_011528133.1:c.618G>C XP_011526435.1:p.Thr206=
NM_030662.4:c.1188G>C MANE Select NP_109587.1:p.Thr396=