Canonical Allele Identifier: CA504986861

Gene: MAP2K2

Linked Data

• MyVariant Identifiers: chr19:g.4099338C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099340C>A , CM000681.2:g.4099340C>A	GRCh38
NC_000019.9:g.4099338C>A , CM000681.1:g.4099338C>A	GRCh37
NC_000019.8:g.4050338C>A	NCBI36
NG_007996.1:g.29789G>T , LRG_750:g.29789G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1219G>T
ENST00000687128.1:n.1219G>T
ENST00000688002.1:n.1074G>T
ENST00000689792.1:n.684G>T
ENST00000262948.10:c.780G>T MANE Select	ENSP00000262948.4:p.Leu260=
ENST00000262948.9:c.780G>T	ENSP00000262948.3:p.Leu260=
ENST00000394867.8:c.489G>T	ENSP00000378336.1:p.Leu163=
ENST00000593364.5:n.727G>T
ENST00000595715.1:n.595G>T
ENST00000597263.5:n.169+1679G>T
ENST00000599021.1:c.29+1679G>T
ENST00000600584.5:n.1340G>T
ENST00000601786.5:n.1081G>T
NM_030662.3:c.780G>T , LRG_750t1:c.780G>T	NP_109587.1:p.Leu260=
XM_006722799.2:c.705+1679G>T	XP_006722862.1:n.705+1679G>T
XM_011528133.1:c.210G>T	XP_011526435.1:p.Leu70=
XM_017026989.1:c.780G>T	XP_016882478.1:p.Leu260=
XM_017026990.1:c.705+1679G>T	XP_016882479.1:n.705+1679G>T
NM_030662.4:c.780G>T MANE Select	NP_109587.1:p.Leu260=