Canonical Allele Identifier: CA504984292

Gene: MAP2K2

Linked Data

• MyVariant Identifiers: chr19:g.4090599C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090601C>G , CM000681.2:g.4090601C>G	GRCh38
NC_000019.9:g.4090599C>G , CM000681.1:g.4090599C>G	GRCh37
NC_000019.8:g.4041599C>G	NCBI36
NG_007996.1:g.38528G>C , LRG_750:g.38528G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.1639G>C
ENST00000688002.1:n.3351G>C
ENST00000688751.1:n.336G>C
ENST00000689792.1:n.1104G>C
ENST00000262948.10:c.1200G>C MANE Select	ENSP00000262948.4:p.Val400=
ENST00000262948.9:c.1200G>C	ENSP00000262948.3:p.Val400=
ENST00000394867.8:c.909G>C	ENSP00000378336.1:p.Val303=
ENST00000597263.5:n.385G>C
ENST00000599021.1:c.310G>C
ENST00000600584.5:n.2649G>C
ENST00000601786.5:n.1501G>C
NM_030662.3:c.1200G>C , LRG_750t1:c.1200G>C	NP_109587.1:p.Val400=
XM_006722799.2:c.921G>C	XP_006722862.1:p.Val307=
XM_011528133.1:c.630G>C	XP_011526435.1:p.Val210=
NM_030662.4:c.1200G>C MANE Select	NP_109587.1:p.Val400=