Canonical Allele Identifier: CA9090836

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 1159777
• ClinVar RCV Id: RCV001503600
• dbSNP Id: rs753640401
• ExAC: 19:4099374 C / T
• gnomAD v2: 19-4099374-C-T
• gnomAD v4: 19-4099376-C-T
• MyVariant Identifiers: chr19:g.4099374C>T (hg19) ; chr19:g.4099376C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099376C>T , CM000681.2:g.4099376C>T	GRCh38
NC_000019.9:g.4099374C>T , CM000681.1:g.4099374C>T	GRCh37
NC_000019.8:g.4050374C>T	NCBI36
NG_007996.1:g.29753G>A , LRG_750:g.29753G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1183G>A
ENST00000687128.1:n.1183G>A
ENST00000688002.1:n.1038G>A
ENST00000689792.1:n.648G>A
ENST00000262948.10:c.744G>A MANE Select	ENSP00000262948.4:p.Ser248=
ENST00000262948.9:c.744G>A	ENSP00000262948.3:p.Ser248=
ENST00000394867.8:c.453G>A	ENSP00000378336.1:p.Ser151=
ENST00000593364.5:n.691G>A
ENST00000595715.1:n.559G>A
ENST00000597263.5:n.169+1643G>A
ENST00000599021.1:c.29+1643G>A
ENST00000600584.5:n.1304G>A
ENST00000601786.5:n.1045G>A
NM_030662.3:c.744G>A , LRG_750t1:c.744G>A	NP_109587.1:p.Ser248=
XM_006722799.2:c.705+1643G>A	XP_006722862.1:n.705+1643G>A
XM_011528133.1:c.174G>A	XP_011526435.1:p.Ser58=
XM_017026989.1:c.744G>A	XP_016882478.1:p.Ser248=
XM_017026990.1:c.705+1643G>A	XP_016882479.1:n.705+1643G>A
NM_030662.4:c.744G>A MANE Select	NP_109587.1:p.Ser248=