Canonical Allele Identifier: CA992804161

Gene: MAP2K2

Linked Data

• dbSNP Id: rs2041138280
• gnomAD v3: 19-4110369-T-A
• gnomAD v4: 19-4110369-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4110369T>A , CM000681.2:g.4110369T>A	GRCh38
NC_000019.9:g.4110367T>A , CM000681.1:g.4110367T>A	GRCh37
NC_000019.8:g.4061367T>A	NCBI36
NG_007996.1:g.18760A>T , LRG_750:g.18760A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.889+140A>T
ENST00000687128.1:n.889+140A>T
ENST00000262948.10:c.450+140A>T MANE Select	ENSP00000262948.4:n.450+140A>T
ENST00000262948.9:c.450+140A>T	ENSP00000262948.3:n.450+140A>T
ENST00000394867.8:c.159+140A>T	ENSP00000378336.1:n.159+140A>T
ENST00000599345.1:n.647+140A>T
NM_030662.3:c.450+140A>T , LRG_750t1:c.450+140A>T	NP_109587.1:n.450+140A>T
XM_006722799.2:c.450+140A>T	XP_006722862.1:n.450+140A>T
XM_017026989.1:c.450+140A>T	XP_016882478.1:n.450+140A>T
XM_017026990.1:c.450+140A>T	XP_016882479.1:n.450+140A>T
XM_017026991.1:c.450+140A>T	XP_016882480.1:n.450+140A>T
NM_030662.4:c.450+140A>T MANE Select	NP_109587.1:n.450+140A>T