Canonical Allele Identifier: CA992819528

Gene: MAP2K2

Linked Data

• dbSNP Id: rs2040907643
• gnomAD v3: 19-4095594-CAG-C
• gnomAD v4: 19-4095594-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4095597_4095598del , CM000681.2:g.4095597_4095598del	GRCh38
NC_000019.9:g.4095595_4095596del , CM000681.1:g.4095595_4095596del	GRCh37
NC_000019.8:g.4046595_4046596del	NCBI36
NG_007996.1:g.33533_33534del , LRG_750:g.33533_33534del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1424-147_1424-146del
ENST00000688002.1:n.3136-147_3136-146del
ENST00000688751.1:n.121-147_121-146del
ENST00000689792.1:n.889-147_889-146del
ENST00000262948.10:c.985-147_985-146del MANE Select	ENSP00000262948.4:n.985-147_985-146del
ENST00000262948.9:c.985-147_985-146del	ENSP00000262948.3:n.985-147_985-146del
ENST00000394867.8:c.694-147_694-146del	ENSP00000378336.1:n.694-147_694-146del
ENST00000595715.1:n.800-147_800-146del
ENST00000597263.5:n.170-147_170-146del
ENST00000599021.1:c.95-147_95-146del
ENST00000600584.5:n.1545-147_1545-146del
ENST00000601786.5:n.1286-147_1286-146del
NM_030662.3:c.985-147_985-146del , LRG_750t1:c.985-147_985-146del	NP_109587.1:n.985-147_985-146del
XM_006722799.2:c.706-147_706-146del	XP_006722862.1:n.706-147_706-146del
XM_011528133.1:c.415-147_415-146del	XP_011526435.1:n.415-147_415-146del
XM_017026989.1:c.985-147_985-146del	XP_016882478.1:n.985-147_985-146del
XM_017026990.1:c.706-147_706-146del	XP_016882479.1:n.706-147_706-146del
NM_030662.4:c.985-147_985-146del MANE Select	NP_109587.1:n.985-147_985-146del