Canonical Allele Identifier: CA504986973

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 996278
• ClinVar RCV Id: RCV001290623
• dbSNP Id: rs2040968148
• MyVariant Identifiers: chr19:g.4099368G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099370G>A , CM000681.2:g.4099370G>A	GRCh38
NC_000019.9:g.4099368G>A , CM000681.1:g.4099368G>A	GRCh37
NC_000019.8:g.4050368G>A	NCBI36
NG_007996.1:g.29759C>T , LRG_750:g.29759C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1189C>T
ENST00000687128.1:n.1189C>T
ENST00000688002.1:n.1044C>T
ENST00000689792.1:n.654C>T
ENST00000262948.10:c.750C>T MANE Select	ENSP00000262948.4:p.Ile250=
ENST00000262948.9:c.750C>T	ENSP00000262948.3:p.Ile250=
ENST00000394867.8:c.459C>T	ENSP00000378336.1:p.Ile153=
ENST00000593364.5:n.697C>T
ENST00000595715.1:n.565C>T
ENST00000597263.5:n.169+1649C>T
ENST00000599021.1:c.29+1649C>T
ENST00000600584.5:n.1310C>T
ENST00000601786.5:n.1051C>T
NM_030662.3:c.750C>T , LRG_750t1:c.750C>T	NP_109587.1:p.Ile250=
XM_006722799.2:c.705+1649C>T	XP_006722862.1:n.705+1649C>T
XM_011528133.1:c.180C>T	XP_011526435.1:p.Ile60=
XM_017026989.1:c.750C>T	XP_016882478.1:p.Ile250=
XM_017026990.1:c.705+1649C>T	XP_016882479.1:n.705+1649C>T
NM_030662.4:c.750C>T MANE Select	NP_109587.1:p.Ile250=