Canonical Allele Identifier: CA16602453

Gene: MAP2K1

Linked Data

• ClinVar Variation Id: 375978
• ClinVar RCV Id: RCV000418731 ; RCV000429601 ; RCV002051704 ; RCV002254296
• dbSNP Id: rs1057519729
• MyVariant Identifiers: chr15:g.66727451A>C (hg19) ; chr15:g.66435113A>C (hg38)
• CIViC: CA16602453
• PubMed: PMID:7651428 ; PMID:18632602 ; PMID:19915144 ; PMID:23569304 ; PMID:25157968

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66435113A>C , CM000677.2:g.66435113A>C	GRCh38
NC_000015.9:g.66727451A>C , CM000677.1:g.66727451A>C	GRCh37
NC_000015.8:g.64514505A>C	NCBI36
NG_008305.1:g.53241A>C , LRG_725:g.53241A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.101A>C	ENSP00000508681.1:p.Gln34Pro
ENST00000685172.1:c.167A>C	ENSP00000509604.1:p.Gln56Pro
ENST00000685763.1:c.167A>C	ENSP00000509016.1:p.Gln56Pro
ENST00000686347.1:c.167A>C	ENSP00000509027.1:p.Gln56Pro
ENST00000687191.1:n.603A>C
ENST00000689951.1:c.167A>C	ENSP00000509308.1:p.Gln56Pro
ENST00000691077.1:c.167A>C	ENSP00000509843.1:p.Gln56Pro
ENST00000691576.1:c.167A>C	ENSP00000510066.1:p.Gln56Pro
ENST00000691937.1:c.167A>C	ENSP00000508768.1:p.Gln56Pro
ENST00000692487.1:c.167A>C	ENSP00000509534.1:p.Gln56Pro
ENST00000692683.1:c.101A>C	ENSP00000508437.1:p.Gln34Pro
ENST00000693150.1:c.101A>C	ENSP00000510309.1:p.Gln34Pro
ENST00000307102.10:c.167A>C MANE Select	ENSP00000302486.5:p.Gln56Pro
ENST00000307102.9:c.167A>C	ENSP00000302486.4:p.Gln56Pro
ENST00000425818.2:n.678A>C
NM_002755.3:c.167A>C , LRG_725t1:c.167A>C	NP_002746.1:p.Gln56Pro
XM_011521783.1:c.101A>C	XP_011520085.1:p.Gln34Pro
XM_011521783.3:c.101A>C	XP_011520085.1:p.Gln34Pro
XM_017022411.2:c.167A>C	XP_016877900.1:p.Gln56Pro
XM_017022412.1:c.101A>C	XP_016877901.1:p.Gln34Pro
NM_002755.4:c.167A>C MANE Select	NP_002746.1:p.Gln56Pro