Canonical Allele Identifier: CA403386560

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4099338-G-A
• MyVariant Identifiers: chr19:g.4099336G>A (hg19) ; chr19:g.4099338G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099338G>A , CM000681.2:g.4099338G>A	GRCh38
NC_000019.9:g.4099336G>A , CM000681.1:g.4099336G>A	GRCh37
NC_000019.8:g.4050336G>A	NCBI36
NG_007996.1:g.29791C>T , LRG_750:g.29791C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1221C>T
ENST00000687128.1:n.1221C>T
ENST00000688002.1:n.1076C>T
ENST00000689792.1:n.686C>T
ENST00000262948.10:c.782C>T MANE Select	ENSP00000262948.4:p.Ala261Val
ENST00000262948.9:c.782C>T	ENSP00000262948.3:p.Ala261Val
ENST00000394867.8:c.491C>T	ENSP00000378336.1:p.Ala164Val
ENST00000593364.5:n.729C>T
ENST00000595715.1:n.597C>T
ENST00000597263.5:n.169+1681C>T
ENST00000599021.1:c.29+1681C>T
ENST00000600584.5:n.1342C>T
ENST00000601786.5:n.1083C>T
NM_030662.3:c.782C>T , LRG_750t1:c.782C>T	NP_109587.1:p.Ala261Val
XM_006722799.2:c.705+1681C>T	XP_006722862.1:n.705+1681C>T
XM_011528133.1:c.212C>T	XP_011526435.1:p.Ala71Val
XM_017026989.1:c.782C>T	XP_016882478.1:p.Ala261Val
XM_017026990.1:c.705+1681C>T	XP_016882479.1:n.705+1681C>T
NM_030662.4:c.782C>T MANE Select	NP_109587.1:p.Ala261Val