Canonical Allele Identifier: CA9090846

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 1291240
• ClinVar RCV Id: RCV001713248
• dbSNP Id: rs572577745
• ExAC: 19:4099447 G / C
• gnomAD v2: 19-4099447-G-C
• gnomAD v3: 19-4099449-G-C
• gnomAD v4: 19-4099449-G-C
• MyVariant Identifiers: chr19:g.4099447G>C (hg19) ; chr19:g.4099449G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099449G>C , CM000681.2:g.4099449G>C	GRCh38
NC_000019.9:g.4099447G>C , CM000681.1:g.4099447G>C	GRCh37
NC_000019.8:g.4050447G>C	NCBI36
NG_007996.1:g.29680C>G , LRG_750:g.29680C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1145-35C>G
ENST00000687128.1:n.1145-35C>G
ENST00000688002.1:n.965C>G
ENST00000689792.1:n.646-71C>G
ENST00000262948.10:c.706-35C>G MANE Select	ENSP00000262948.4:n.706-35C>G
ENST00000262948.9:c.706-35C>G	ENSP00000262948.3:n.706-35C>G
ENST00000394867.8:c.415-35C>G	ENSP00000378336.1:n.415-35C>G
ENST00000593364.5:n.653-35C>G
ENST00000595715.1:n.486C>G
ENST00000597263.5:n.169+1570C>G
ENST00000599021.1:c.29+1570C>G
ENST00000600584.5:n.1231C>G
ENST00000601786.5:n.1007-35C>G
ENST00000602167.5:n.426-35C>G
NM_030662.3:c.706-35C>G , LRG_750t1:c.706-35C>G	NP_109587.1:n.706-35C>G
XM_006722799.2:c.705+1570C>G	XP_006722862.1:n.705+1570C>G
XM_011528133.1:c.136-35C>G	XP_011526435.1:n.136-35C>G
XM_017026989.1:c.706-35C>G	XP_016882478.1:n.706-35C>G
XM_017026990.1:c.705+1570C>G	XP_016882479.1:n.705+1570C>G
XM_017026991.1:c.*281C>G	XP_016882480.1:n.*281C>G
NM_030662.4:c.706-35C>G MANE Select	NP_109587.1:n.706-35C>G