Canonical Allele Identifier: CA403380970

Gene: MAP2K2

Linked Data

• dbSNP Id: rs866824742
• gnomAD v4: 19-4090659-C-A
• MyVariant Identifiers: chr19:g.4090657C>A (hg19) ; chr19:g.4090659C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090659C>A , CM000681.2:g.4090659C>A	GRCh38
NC_000019.9:g.4090657C>A , CM000681.1:g.4090657C>A	GRCh37
NC_000019.8:g.4041657C>A	NCBI36
NG_007996.1:g.38470G>T , LRG_750:g.38470G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1581G>T
ENST00000688002.1:n.3293G>T
ENST00000688751.1:n.278G>T
ENST00000689792.1:n.1046G>T
ENST00000262948.10:c.1142G>T MANE Select	ENSP00000262948.4:p.Gly381Val
ENST00000262948.9:c.1142G>T	ENSP00000262948.3:p.Gly381Val
ENST00000394867.8:c.851G>T	ENSP00000378336.1:p.Gly284Val
ENST00000597263.5:n.327G>T
ENST00000599021.1:c.252G>T
ENST00000600584.5:n.2591G>T
ENST00000601786.5:n.1443G>T
NM_030662.3:c.1142G>T , LRG_750t1:c.1142G>T	NP_109587.1:p.Gly381Val
XM_006722799.2:c.863G>T	XP_006722862.1:p.Gly288Val
XM_011528133.1:c.572G>T	XP_011526435.1:p.Gly191Val
NM_030662.4:c.1142G>T MANE Select	NP_109587.1:p.Gly381Val