Canonical Allele Identifier: CA9091010

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 544018
• ClinVar RCV Id: RCV000655014 ; RCV001193490 ; RCV002369767
• dbSNP Id: rs749956316
• ExAC: 19:4110567 G / A
• gnomAD v2: 19-4110567-G-A
• gnomAD v3: 19-4110569-G-A
• gnomAD v4: 19-4110569-G-A
• COSMIC: COSM5609282 ; COSM5609283
• MyVariant Identifiers: chr19:g.4110567G>A (hg19) ; chr19:g.4110569G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4110569G>A , CM000681.2:g.4110569G>A	GRCh38
NC_000019.9:g.4110567G>A , CM000681.1:g.4110567G>A	GRCh37
NC_000019.8:g.4061567G>A	NCBI36
NG_007996.1:g.18560C>T , LRG_750:g.18560C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.829C>T
ENST00000687128.1:n.829C>T
ENST00000262948.10:c.390C>T MANE Select	ENSP00000262948.4:p.Ile130=
ENST00000262948.9:c.390C>T	ENSP00000262948.3:p.Ile130=
ENST00000394867.8:c.99C>T	ENSP00000378336.1:p.Ile33=
ENST00000599345.1:n.587C>T
NM_030662.3:c.390C>T , LRG_750t1:c.390C>T	NP_109587.1:p.Ile130=
XM_006722799.2:c.390C>T	XP_006722862.1:p.Ile130=
XM_017026989.1:c.390C>T	XP_016882478.1:p.Ile130=
XM_017026990.1:c.390C>T	XP_016882479.1:p.Ile130=
XM_017026991.1:c.390C>T	XP_016882480.1:p.Ile130=
NM_030662.4:c.390C>T MANE Select	NP_109587.1:p.Ile130=