Canonical Allele Identifier: CA304449346

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 1262041
• ClinVar RCV Id: RCV001667160
• dbSNP Id: rs541608579
• gnomAD v2: 19-4099484-G-A
• gnomAD v3: 19-4099486-G-A
• gnomAD v4: 19-4099486-G-A
• MyVariant Identifiers: chr19:g.4099484G>A (hg19) ; chr19:g.4099486G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099486G>A , CM000681.2:g.4099486G>A	GRCh38
NC_000019.9:g.4099484G>A , CM000681.1:g.4099484G>A	GRCh37
NC_000019.8:g.4050484G>A	NCBI36
NG_007996.1:g.29643C>T , LRG_750:g.29643C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1145-72C>T
ENST00000687128.1:n.1145-72C>T
ENST00000688002.1:n.928C>T
ENST00000689792.1:n.646-108C>T
ENST00000262948.10:c.706-72C>T MANE Select	ENSP00000262948.4:n.706-72C>T
ENST00000262948.9:c.706-72C>T	ENSP00000262948.3:n.706-72C>T
ENST00000394867.8:c.415-72C>T	ENSP00000378336.1:n.415-72C>T
ENST00000593364.5:n.653-72C>T
ENST00000595715.1:n.449C>T
ENST00000597263.5:n.169+1533C>T
ENST00000599021.1:c.29+1533C>T
ENST00000600584.5:n.1194C>T
ENST00000601786.5:n.1007-72C>T
ENST00000602167.5:n.426-72C>T
NM_030662.3:c.706-72C>T , LRG_750t1:c.706-72C>T	NP_109587.1:n.706-72C>T
XM_006722799.2:c.705+1533C>T	XP_006722862.1:n.705+1533C>T
XM_011528133.1:c.136-72C>T	XP_011526435.1:n.136-72C>T
XM_017026989.1:c.706-72C>T	XP_016882478.1:n.706-72C>T
XM_017026990.1:c.705+1533C>T	XP_016882479.1:n.705+1533C>T
XM_017026991.1:c.*244C>T	XP_016882480.1:n.*244C>T
NM_030662.4:c.706-72C>T MANE Select	NP_109587.1:n.706-72C>T