Canonical Allele Identifier: CA403380734
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090624-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090624C>A , CM000681.2:g.4090624C>A GRCh38
NC_000019.9:g.4090622C>A , CM000681.1:g.4090622C>A GRCh37
NC_000019.8:g.4041622C>A NCBI36
NG_007996.1:g.38505G>T , LRG_750:g.38505G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1616G>T
ENST00000688002.1:n.3328G>T
ENST00000688751.1:n.313G>T
ENST00000689792.1:n.1081G>T
ENST00000262948.10:c.1177G>T MANE Select ENSP00000262948.4:p.Gly393Cys
ENST00000262948.9:c.1177G>T ENSP00000262948.3:p.Gly393Cys
ENST00000394867.8:c.886G>T ENSP00000378336.1:p.Gly296Cys
ENST00000597263.5:n.362G>T
ENST00000599021.1:c.287G>T
ENST00000600584.5:n.2626G>T
ENST00000601786.5:n.1478G>T
NM_030662.3:c.1177G>T , LRG_750t1:c.1177G>T NP_109587.1:p.Gly393Cys
XM_006722799.2:c.898G>T XP_006722862.1:p.Gly300Cys
XM_011528133.1:c.607G>T XP_011526435.1:p.Gly203Cys
NM_030662.4:c.1177G>T MANE Select NP_109587.1:p.Gly393Cys