Canonical Allele Identifier: CA992821423

Gene: MAP2K2

Linked Data

• dbSNP Id: rs2040970670
• gnomAD v3: 19-4099507-T-G
• gnomAD v4: 19-4099507-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099507T>G , CM000681.2:g.4099507T>G	GRCh38
NC_000019.9:g.4099505T>G , CM000681.1:g.4099505T>G	GRCh37
NC_000019.8:g.4050505T>G	NCBI36
NG_007996.1:g.29622A>C , LRG_750:g.29622A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1145-93A>C
ENST00000687128.1:n.1145-93A>C
ENST00000688002.1:n.907A>C
ENST00000689792.1:n.646-129A>C
ENST00000262948.10:c.706-93A>C MANE Select	ENSP00000262948.4:n.706-93A>C
ENST00000262948.9:c.706-93A>C	ENSP00000262948.3:n.706-93A>C
ENST00000394867.8:c.415-93A>C	ENSP00000378336.1:n.415-93A>C
ENST00000593364.5:n.653-93A>C
ENST00000595715.1:n.428A>C
ENST00000597263.5:n.169+1512A>C
ENST00000599021.1:c.29+1512A>C
ENST00000600584.5:n.1173A>C
ENST00000601786.5:n.1007-93A>C
ENST00000602167.5:n.426-93A>C
NM_030662.3:c.706-93A>C , LRG_750t1:c.706-93A>C	NP_109587.1:n.706-93A>C
XM_006722799.2:c.705+1512A>C	XP_006722862.1:n.705+1512A>C
XM_011528133.1:c.136-93A>C	XP_011526435.1:n.136-93A>C
XM_017026989.1:c.706-93A>C	XP_016882478.1:n.706-93A>C
XM_017026990.1:c.705+1512A>C	XP_016882479.1:n.705+1512A>C
XM_017026991.1:c.*223A>C	XP_016882480.1:n.*223A>C
NM_030662.4:c.706-93A>C MANE Select	NP_109587.1:n.706-93A>C