Canonical Allele Identifier: CA504984295

Gene: MAP2K2

Linked Data

• dbSNP Id: rs987393686
• gnomAD v2: 19-4090602-G-T
• gnomAD v4: 19-4090604-G-T
• MyVariant Identifiers: chr19:g.4090602G>T (hg19) ; chr19:g.4090604G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090604G>T , CM000681.2:g.4090604G>T	GRCh38
NC_000019.9:g.4090602G>T , CM000681.1:g.4090602G>T	GRCh37
NC_000019.8:g.4041602G>T	NCBI36
NG_007996.1:g.38525C>A , LRG_750:g.38525C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.1636C>A
ENST00000688002.1:n.3348C>A
ENST00000688751.1:n.333C>A
ENST00000689792.1:n.1101C>A
ENST00000262948.10:c.1197C>A MANE Select	ENSP00000262948.4:p.Ala399=
ENST00000262948.9:c.1197C>A	ENSP00000262948.3:p.Ala399=
ENST00000394867.8:c.906C>A	ENSP00000378336.1:p.Ala302=
ENST00000597263.5:n.382C>A
ENST00000599021.1:c.307C>A
ENST00000600584.5:n.2646C>A
ENST00000601786.5:n.1498C>A
NM_030662.3:c.1197C>A , LRG_750t1:c.1197C>A	NP_109587.1:p.Ala399=
XM_006722799.2:c.918C>A	XP_006722862.1:p.Ala306=
XM_011528133.1:c.627C>A	XP_011526435.1:p.Ala209=
NM_030662.4:c.1197C>A MANE Select	NP_109587.1:p.Ala399=