Canonical Allele Identifier: CA9091009

Gene: MAP2K2

Linked Data

• dbSNP Id: rs764596396
• ExAC: 19:4110559 A / C
• gnomAD v2: 19-4110559-A-C
• gnomAD v4: 19-4110561-A-C
• MyVariant Identifiers: chr19:g.4110559A>C (hg19) ; chr19:g.4110561A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4110561A>C , CM000681.2:g.4110561A>C	GRCh38
NC_000019.9:g.4110559A>C , CM000681.1:g.4110559A>C	GRCh37
NC_000019.8:g.4061559A>C	NCBI36
NG_007996.1:g.18568T>G , LRG_750:g.18568T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.837T>G
ENST00000687128.1:n.837T>G
ENST00000262948.10:c.398T>G MANE Select	ENSP00000262948.4:p.Phe133Cys
ENST00000262948.9:c.398T>G	ENSP00000262948.3:p.Phe133Cys
ENST00000394867.8:c.107T>G	ENSP00000378336.1:p.Phe36Cys
ENST00000599345.1:n.595T>G
NM_030662.3:c.398T>G , LRG_750t1:c.398T>G	NP_109587.1:p.Phe133Cys
XM_006722799.2:c.398T>G	XP_006722862.1:p.Phe133Cys
XM_017026989.1:c.398T>G	XP_016882478.1:p.Phe133Cys
XM_017026990.1:c.398T>G	XP_016882479.1:p.Phe133Cys
XM_017026991.1:c.398T>G	XP_016882480.1:p.Phe133Cys
NM_030662.4:c.398T>G MANE Select	NP_109587.1:p.Phe133Cys