Canonical Allele Identifier: CA403380581

Gene: MAP2K2

Linked Data

• MyVariant Identifiers: chr19:g.4090596T>G (hg19) ; chr19:g.4090598T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090598T>G , CM000681.2:g.4090598T>G	GRCh38
NC_000019.9:g.4090596T>G , CM000681.1:g.4090596T>G	GRCh37
NC_000019.8:g.4041596T>G	NCBI36
NG_007996.1:g.38531A>C , LRG_750:g.38531A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1642A>C
ENST00000688002.1:n.3354A>C
ENST00000688751.1:n.339A>C
ENST00000689792.1:n.1107A>C
ENST00000262948.10:c.1203A>C MANE Select	ENSP00000262948.4:p.Ter401Cys
ENST00000262948.9:c.1203A>C	ENSP00000262948.3:p.Ter401Cys
ENST00000394867.8:c.912A>C	ENSP00000378336.1:p.Ter304Cys
ENST00000597263.5:n.388A>C
ENST00000599021.1:c.313A>C
ENST00000600584.5:n.2652A>C
ENST00000601786.5:n.1504A>C
NM_030662.3:c.1203A>C , LRG_750t1:c.1203A>C	NP_109587.1:p.Ter401Cys
XM_006722799.2:c.924A>C	XP_006722862.1:p.Ter308Cys
XM_011528133.1:c.633A>C	XP_011526435.1:p.Ter211Cys
NM_030662.4:c.1203A>C MANE Select	NP_109587.1:p.Ter401Cys