Canonical Allele Identifier: CA504984714

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 928897
• ClinVar RCV Id: RCV001193491
• dbSNP Id: rs1454910757
• gnomAD v2: 19-4095442-A-T
• gnomAD v4: 19-4095444-A-T
• MyVariant Identifiers: chr19:g.4095442A>T (hg19) ; chr19:g.4095444A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4095444A>T , CM000681.2:g.4095444A>T	GRCh38
NC_000019.9:g.4095442A>T , CM000681.1:g.4095442A>T	GRCh37
NC_000019.8:g.4046442A>T	NCBI36
NG_007996.1:g.33685T>A , LRG_750:g.33685T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1429T>A
ENST00000688002.1:n.3141T>A
ENST00000688751.1:n.126T>A
ENST00000689792.1:n.894T>A
ENST00000262948.10:c.990T>A MANE Select	ENSP00000262948.4:p.Pro330=
ENST00000262948.9:c.990T>A	ENSP00000262948.3:p.Pro330=
ENST00000394867.8:c.699T>A	ENSP00000378336.1:p.Pro233=
ENST00000595715.1:n.805T>A
ENST00000597263.5:n.175T>A
ENST00000599021.1:c.100T>A
ENST00000600584.5:n.1550T>A
ENST00000601786.5:n.1291T>A
NM_030662.3:c.990T>A , LRG_750t1:c.990T>A	NP_109587.1:p.Pro330=
XM_006722799.2:c.711T>A	XP_006722862.1:p.Pro237=
XM_011528133.1:c.420T>A	XP_011526435.1:p.Pro140=
XM_017026989.1:c.990T>A	XP_016882478.1:p.Pro330=
XM_017026990.1:c.711T>A	XP_016882479.1:p.Pro237=
NM_030662.4:c.990T>A MANE Select	NP_109587.1:p.Pro330=