Canonical Allele Identifier: CA2584877062

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4094612-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4094612C>G , CM000681.2:g.4094612C>G	GRCh38
NC_000019.9:g.4094610C>G , CM000681.1:g.4094610C>G	GRCh37
NC_000019.8:g.4045610C>G	NCBI36
NG_007996.1:g.34517G>C , LRG_750:g.34517G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1486-114G>C
ENST00000688002.1:n.3198-114G>C
ENST00000688751.1:n.183-114G>C
ENST00000689792.1:n.951-114G>C
ENST00000262948.10:c.1047-114G>C MANE Select	ENSP00000262948.4:n.1047-114G>C
ENST00000262948.9:c.1047-114G>C	ENSP00000262948.3:n.1047-114G>C
ENST00000394867.8:c.756-114G>C	ENSP00000378336.1:n.756-114G>C
ENST00000597263.5:n.232-114G>C
ENST00000599021.1:c.157-114G>C
ENST00000600584.5:n.2382G>C
ENST00000601786.5:n.1348-114G>C
NM_030662.3:c.1047-114G>C , LRG_750t1:c.1047-114G>C	NP_109587.1:n.1047-114G>C
XM_006722799.2:c.768-114G>C	XP_006722862.1:n.768-114G>C
XM_011528133.1:c.477-114G>C	XP_011526435.1:n.477-114G>C
XM_017026989.1:c.1481G>C	XP_016882478.1:p.Arg494Thr
XM_017026990.1:c.1202G>C	XP_016882479.1:p.Arg401Thr
NM_030662.4:c.1047-114G>C MANE Select	NP_109587.1:n.1047-114G>C