Canonical Allele Identifier: CA403380727

Gene: MAP2K2

Linked Data

• dbSNP Id: rs1202213101
• gnomAD v4: 19-4090623-C-T
• MyVariant Identifiers: chr19:g.4090621C>T (hg19) ; chr19:g.4090623C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090623C>T , CM000681.2:g.4090623C>T	GRCh38
NC_000019.9:g.4090621C>T , CM000681.1:g.4090621C>T	GRCh37
NC_000019.8:g.4041621C>T	NCBI36
NG_007996.1:g.38506G>A , LRG_750:g.38506G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1617G>A
ENST00000688002.1:n.3329G>A
ENST00000688751.1:n.314G>A
ENST00000689792.1:n.1082G>A
ENST00000262948.10:c.1178G>A MANE Select	ENSP00000262948.4:p.Gly393Asp
ENST00000262948.9:c.1178G>A	ENSP00000262948.3:p.Gly393Asp
ENST00000394867.8:c.887G>A	ENSP00000378336.1:p.Gly296Asp
ENST00000597263.5:n.363G>A
ENST00000599021.1:c.288G>A
ENST00000600584.5:n.2627G>A
ENST00000601786.5:n.1479G>A
NM_030662.3:c.1178G>A , LRG_750t1:c.1178G>A	NP_109587.1:p.Gly393Asp
XM_006722799.2:c.899G>A	XP_006722862.1:p.Gly300Asp
XM_011528133.1:c.608G>A	XP_011526435.1:p.Gly203Asp
NM_030662.4:c.1178G>A MANE Select	NP_109587.1:p.Gly393Asp