Canonical Allele Identifier: CA9090801

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 40833
• ClinVar RCV Id: RCV001610308 ; RCV002371814
• dbSNP Id: rs560316877
• ExAC: 19:4099215 G / A
• gnomAD v2: 19-4099215-G-A
• gnomAD v3: 19-4099217-G-A
• gnomAD v4: 19-4099217-G-A
• MyVariant Identifiers: chr19:g.4099215G>A (hg19) ; chr19:g.4099217G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099217G>A , CM000681.2:g.4099217G>A	GRCh38
NC_000019.9:g.4099215G>A , CM000681.1:g.4099215G>A	GRCh37
NC_000019.8:g.4050215G>A	NCBI36
NG_007996.1:g.29912C>T , LRG_750:g.29912C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.1342C>T
ENST00000687128.1:n.1342C>T
ENST00000688002.1:n.1197C>T
ENST00000689792.1:n.807C>T
ENST00000262948.10:c.903C>T MANE Select	ENSP00000262948.4:p.Pro301=
ENST00000262948.9:c.903C>T	ENSP00000262948.3:p.Pro301=
ENST00000394867.8:c.612C>T	ENSP00000378336.1:p.Pro204=
ENST00000593364.5:n.850C>T
ENST00000595715.1:n.718C>T
ENST00000597263.5:n.169+1802C>T
ENST00000599021.1:c.29+1802C>T
ENST00000600584.5:n.1463C>T
ENST00000601786.5:n.1204C>T
NM_030662.3:c.903C>T , LRG_750t1:c.903C>T	NP_109587.1:p.Pro301=
XM_006722799.2:c.705+1802C>T	XP_006722862.1:n.705+1802C>T
XM_011528133.1:c.333C>T	XP_011526435.1:p.Pro111=
XM_017026989.1:c.903C>T	XP_016882478.1:p.Pro301=
XM_017026990.1:c.705+1802C>T	XP_016882479.1:n.705+1802C>T
NM_030662.4:c.903C>T MANE Select	NP_109587.1:p.Pro301=