Canonical Allele Identifier: CA279999

Gene: MAP2K1

Linked Data

• ClinVar Variation Id: 40747
• ClinVar RCV Id: RCV001811234
• dbSNP Id: rs397516793
• MyVariant Identifiers: chr15:g.66729180T>C (hg19) ; chr15:g.66436842T>C (hg38)
• ERepo: CA279999/MONDO:0015280/004
• PubMed: PMID:12239713 ; PMID:12529707 ; PMID:16439621 ; PMID:16474404 ; PMID:17366577 ; PMID:17551924 ; PMID:17704260 ; PMID:18042262 ; PMID:19156172 ; PMID:20958325 ; PMID:21654472 ; PMID:22589294 ; PMID:22753777 ; PMID:24101678 ; PMID:25423878 ; PMID:27862862

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66436842T>C , CM000677.2:g.66436842T>C	GRCh38
NC_000015.9:g.66729180T>C , CM000677.1:g.66729180T>C	GRCh37
NC_000015.8:g.64516234T>C	NCBI36
NG_008305.1:g.54970T>C , LRG_725:g.54970T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684779.1:c.322T>C	ENSP00000508681.1:p.Tyr108His
ENST00000685172.1:c.388T>C	ENSP00000509604.1:p.Tyr130His
ENST00000685763.1:c.291+1605T>C	ENSP00000509016.1:n.291+1605T>C
ENST00000686347.1:c.388T>C	ENSP00000509027.1:p.Tyr130His
ENST00000687191.1:n.824T>C
ENST00000689951.1:c.388T>C	ENSP00000509308.1:p.Tyr130His
ENST00000691077.1:c.388T>C	ENSP00000509843.1:p.Tyr130His
ENST00000691576.1:c.388T>C	ENSP00000510066.1:p.Tyr130His
ENST00000691937.1:c.388T>C	ENSP00000508768.1:p.Tyr130His
ENST00000692487.1:c.388T>C	ENSP00000509534.1:p.Tyr130His
ENST00000692683.1:c.322T>C	ENSP00000508437.1:p.Tyr108His
ENST00000693150.1:c.322T>C	ENSP00000510309.1:p.Tyr108His
ENST00000307102.10:c.388T>C MANE Select	ENSP00000302486.5:p.Tyr130His
ENST00000307102.9:c.388T>C	ENSP00000302486.4:p.Tyr130His
ENST00000425818.2:n.899T>C
NM_002755.3:c.388T>C , LRG_725t1:c.388T>C	NP_002746.1:p.Tyr130His
XM_011521783.1:c.322T>C	XP_011520085.1:p.Tyr108His
XM_011521783.3:c.322T>C	XP_011520085.1:p.Tyr108His
XM_017022411.2:c.388T>C	XP_016877900.1:p.Tyr130His
XM_017022412.1:c.322T>C	XP_016877901.1:p.Tyr108His
NM_002755.4:c.388T>C MANE Select	NP_002746.1:p.Tyr130His