Canonical Allele Identifier: CA403383467

Gene: MAP2K2

Linked Data

• MyVariant Identifiers: chr19:g.4095444G>T (hg19) ; chr19:g.4095446G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4095446G>T , CM000681.2:g.4095446G>T	GRCh38
NC_000019.9:g.4095444G>T , CM000681.1:g.4095444G>T	GRCh37
NC_000019.8:g.4046444G>T	NCBI36
NG_007996.1:g.33683C>A , LRG_750:g.33683C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1427C>A
ENST00000688002.1:n.3139C>A
ENST00000688751.1:n.124C>A
ENST00000689792.1:n.892C>A
ENST00000262948.10:c.988C>A MANE Select	ENSP00000262948.4:p.Pro330Thr
ENST00000262948.9:c.988C>A	ENSP00000262948.3:p.Pro330Thr
ENST00000394867.8:c.697C>A	ENSP00000378336.1:p.Pro233Thr
ENST00000595715.1:n.803C>A
ENST00000597263.5:n.173C>A
ENST00000599021.1:c.98C>A
ENST00000600584.5:n.1548C>A
ENST00000601786.5:n.1289C>A
NM_030662.3:c.988C>A , LRG_750t1:c.988C>A	NP_109587.1:p.Pro330Thr
XM_006722799.2:c.709C>A	XP_006722862.1:p.Pro237Thr
XM_011528133.1:c.418C>A	XP_011526435.1:p.Pro140Thr
XM_017026989.1:c.988C>A	XP_016882478.1:p.Pro330Thr
XM_017026990.1:c.709C>A	XP_016882479.1:p.Pro237Thr
NM_030662.4:c.988C>A MANE Select	NP_109587.1:p.Pro330Thr