Canonical Allele Identifier: CA304449348

Gene: MAP2K2

Linked Data

• dbSNP Id: rs558396911
• gnomAD v3: 19-4099490-C-G
• gnomAD v4: 19-4099490-C-G
• MyVariant Identifiers: chr19:g.4099488C>G (hg19) ; chr19:g.4099490C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099490C>G , CM000681.2:g.4099490C>G	GRCh38
NC_000019.9:g.4099488C>G , CM000681.1:g.4099488C>G	GRCh37
NC_000019.8:g.4050488C>G	NCBI36
NG_007996.1:g.29639G>C , LRG_750:g.29639G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1145-76G>C
ENST00000687128.1:n.1145-76G>C
ENST00000688002.1:n.924G>C
ENST00000689792.1:n.646-112G>C
ENST00000262948.10:c.706-76G>C MANE Select	ENSP00000262948.4:n.706-76G>C
ENST00000262948.9:c.706-76G>C	ENSP00000262948.3:n.706-76G>C
ENST00000394867.8:c.415-76G>C	ENSP00000378336.1:n.415-76G>C
ENST00000593364.5:n.653-76G>C
ENST00000595715.1:n.445G>C
ENST00000597263.5:n.169+1529G>C
ENST00000599021.1:c.29+1529G>C
ENST00000600584.5:n.1190G>C
ENST00000601786.5:n.1007-76G>C
ENST00000602167.5:n.426-76G>C
NM_030662.3:c.706-76G>C , LRG_750t1:c.706-76G>C	NP_109587.1:n.706-76G>C
XM_006722799.2:c.705+1529G>C	XP_006722862.1:n.705+1529G>C
XM_011528133.1:c.136-76G>C	XP_011526435.1:n.136-76G>C
XM_017026989.1:c.706-76G>C	XP_016882478.1:n.706-76G>C
XM_017026990.1:c.705+1529G>C	XP_016882479.1:n.705+1529G>C
XM_017026991.1:c.*240G>C	XP_016882480.1:n.*240G>C
NM_030662.4:c.706-76G>C MANE Select	NP_109587.1:n.706-76G>C