Canonical Allele Identifier: CA992819086

Gene: MAP2K2

Linked Data

• dbSNP Id: rs2040890424
• gnomAD v3: 19-4094678-C-T
• gnomAD v4: 19-4094678-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4094678C>T , CM000681.2:g.4094678C>T	GRCh38
NC_000019.9:g.4094676C>T , CM000681.1:g.4094676C>T	GRCh37
NC_000019.8:g.4045676C>T	NCBI36
NG_007996.1:g.34451G>A , LRG_750:g.34451G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1486-180G>A
ENST00000688002.1:n.3198-180G>A
ENST00000688751.1:n.183-180G>A
ENST00000689792.1:n.951-180G>A
ENST00000262948.10:c.1047-180G>A MANE Select	ENSP00000262948.4:n.1047-180G>A
ENST00000262948.9:c.1047-180G>A	ENSP00000262948.3:n.1047-180G>A
ENST00000394867.8:c.756-180G>A	ENSP00000378336.1:n.756-180G>A
ENST00000597263.5:n.232-180G>A
ENST00000599021.1:c.157-180G>A
ENST00000600584.5:n.2316G>A
ENST00000601786.5:n.1348-180G>A
NM_030662.3:c.1047-180G>A , LRG_750t1:c.1047-180G>A	NP_109587.1:n.1047-180G>A
XM_006722799.2:c.768-180G>A	XP_006722862.1:n.768-180G>A
XM_011528133.1:c.477-180G>A	XP_011526435.1:n.477-180G>A
XM_017026989.1:c.1415G>A	XP_016882478.1:p.Trp472Ter
XM_017026990.1:c.1136G>A	XP_016882479.1:p.Trp379Ter
NM_030662.4:c.1047-180G>A MANE Select	NP_109587.1:n.1047-180G>A