Canonical Allele Identifier: CA504984447

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4094480-C-A
• MyVariant Identifiers: chr19:g.4094478C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4094480C>A , CM000681.2:g.4094480C>A	GRCh38
NC_000019.9:g.4094478C>A , CM000681.1:g.4094478C>A	GRCh37
NC_000019.8:g.4045478C>A	NCBI36
NG_007996.1:g.34649G>T , LRG_750:g.34649G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.1504G>T
ENST00000688002.1:n.3216G>T
ENST00000688751.1:n.201G>T
ENST00000689792.1:n.969G>T
ENST00000262948.10:c.1065G>T MANE Select	ENSP00000262948.4:p.Ala355=
ENST00000262948.9:c.1065G>T	ENSP00000262948.3:p.Ala355=
ENST00000394867.8:c.774G>T	ENSP00000378336.1:p.Ala258=
ENST00000597263.5:n.250G>T
ENST00000599021.1:c.175G>T
ENST00000600584.5:n.2514G>T
ENST00000601786.5:n.1366G>T
NM_030662.3:c.1065G>T , LRG_750t1:c.1065G>T	NP_109587.1:p.Ala355=
XM_006722799.2:c.786G>T	XP_006722862.1:p.Ala262=
XM_011528133.1:c.495G>T	XP_011526435.1:p.Ala165=
NM_030662.4:c.1065G>T MANE Select	NP_109587.1:p.Ala355=