Canonical Allele Identifier: CA882244284

Gene: MAP2K2

Linked Data

• dbSNP Id: rs1381456101
• gnomAD v4: 19-4099509-C-T
• MyVariant Identifiers: chr19:g.4099507C>T (hg19) ; chr19:g.4099509C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099509C>T , CM000681.2:g.4099509C>T	GRCh38
NC_000019.9:g.4099507C>T , CM000681.1:g.4099507C>T	GRCh37
NC_000019.8:g.4050507C>T	NCBI36
NG_007996.1:g.29620G>A , LRG_750:g.29620G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1145-95G>A
ENST00000687128.1:n.1145-95G>A
ENST00000688002.1:n.905G>A
ENST00000689792.1:n.646-131G>A
ENST00000262948.10:c.706-95G>A MANE Select	ENSP00000262948.4:n.706-95G>A
ENST00000262948.9:c.706-95G>A	ENSP00000262948.3:n.706-95G>A
ENST00000394867.8:c.415-95G>A	ENSP00000378336.1:n.415-95G>A
ENST00000593364.5:n.653-95G>A
ENST00000595715.1:n.426G>A
ENST00000597263.5:n.169+1510G>A
ENST00000599021.1:c.29+1510G>A
ENST00000600584.5:n.1171G>A
ENST00000601786.5:n.1007-95G>A
ENST00000602167.5:n.426-95G>A
NM_030662.3:c.706-95G>A , LRG_750t1:c.706-95G>A	NP_109587.1:n.706-95G>A
XM_006722799.2:c.705+1510G>A	XP_006722862.1:n.705+1510G>A
XM_011528133.1:c.136-95G>A	XP_011526435.1:n.136-95G>A
XM_017026989.1:c.706-95G>A	XP_016882478.1:n.706-95G>A
XM_017026990.1:c.705+1510G>A	XP_016882479.1:n.705+1510G>A
XM_017026991.1:c.*221G>A	XP_016882480.1:n.*221G>A
NM_030662.4:c.706-95G>A MANE Select	NP_109587.1:n.706-95G>A