Canonical Allele Identifier: CA403391437

Gene: MAP2K2

Linked Data

• dbSNP Id: rs397517413
• MyVariant Identifiers: chr19:g.4110566C>G (hg19) ; chr19:g.4110568C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4110568C>G , CM000681.2:g.4110568C>G	GRCh38
NC_000019.9:g.4110566C>G , CM000681.1:g.4110566C>G	GRCh37
NC_000019.8:g.4061566C>G	NCBI36
NG_007996.1:g.18561G>C , LRG_750:g.18561G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.830G>C
ENST00000687128.1:n.830G>C
ENST00000262948.10:c.391G>C MANE Select	ENSP00000262948.4:p.Val131Leu
ENST00000262948.9:c.391G>C	ENSP00000262948.3:p.Val131Leu
ENST00000394867.8:c.100G>C	ENSP00000378336.1:p.Val34Leu
ENST00000599345.1:n.588G>C
NM_030662.3:c.391G>C , LRG_750t1:c.391G>C	NP_109587.1:p.Val131Leu
XM_006722799.2:c.391G>C	XP_006722862.1:p.Val131Leu
XM_017026989.1:c.391G>C	XP_016882478.1:p.Val131Leu
XM_017026990.1:c.391G>C	XP_016882479.1:p.Val131Leu
XM_017026991.1:c.391G>C	XP_016882480.1:p.Val131Leu
NM_030662.4:c.391G>C MANE Select	NP_109587.1:p.Val131Leu