Canonical Allele Identifier: CA279962

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 8275
• ClinVar RCV Id: RCV000008764 ; RCV000158021 ; RCV000208770
• dbSNP Id: rs267607230
• MyVariant Identifiers: chr19:g.4110574G>T (hg19) ; chr19:g.4110576G>T (hg38)
• ERepo: CA279962/MONDO:0015280/004
• PubMed: PMID:20301365 ; PMID:20358587

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4110576G>T , CM000681.2:g.4110576G>T	GRCh38
NC_000019.9:g.4110574G>T , CM000681.1:g.4110574G>T	GRCh37
NC_000019.8:g.4061574G>T	NCBI36
NG_007996.1:g.18553C>A , LRG_750:g.18553C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.822C>A
ENST00000687128.1:n.822C>A
ENST00000262948.10:c.383C>A MANE Select	ENSP00000262948.4:p.Pro128Gln
ENST00000262948.9:c.383C>A	ENSP00000262948.3:p.Pro128Gln
ENST00000394867.8:c.92C>A	ENSP00000378336.1:p.Pro31Gln
ENST00000599345.1:n.580C>A
NM_030662.3:c.383C>A , LRG_750t1:c.383C>A	NP_109587.1:p.Pro128Gln
XM_006722799.2:c.383C>A	XP_006722862.1:p.Pro128Gln
XM_017026989.1:c.383C>A	XP_016882478.1:p.Pro128Gln
XM_017026990.1:c.383C>A	XP_016882479.1:p.Pro128Gln
XM_017026991.1:c.383C>A	XP_016882480.1:p.Pro128Gln
NM_030662.4:c.383C>A MANE Select	NP_109587.1:p.Pro128Gln