Canonical Allele Identifier: CA181038

Gene: MAP2K1

Linked Data

• ClinVar Variation Id: 177942
• ClinVar RCV Id: RCV000154603 ; RCV000819149
• dbSNP Id: rs727504413
• ExAC: 15:66679741 C / G
• gnomAD v2: 15-66679741-C-G
• gnomAD v3: 15-66387403-C-G
• gnomAD v4: 15-66387403-C-G
• MyVariant Identifiers: chr15:g.66679741C>G (hg19) ; chr15:g.66387403C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66387403C>G , CM000677.2:g.66387403C>G	GRCh38
NC_000015.9:g.66679741C>G , CM000677.1:g.66679741C>G	GRCh37
NC_000015.8:g.64466795C>G	NCBI36
NG_008305.1:g.5531C>G , LRG_725:g.5531C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000685172.1:c.56C>G	ENSP00000509604.1:p.Ala19Gly
ENST00000685763.1:c.56C>G	ENSP00000509016.1:p.Ala19Gly
ENST00000686347.1:c.56C>G	ENSP00000509027.1:p.Ala19Gly
ENST00000687191.1:n.492C>G
ENST00000689951.1:c.56C>G	ENSP00000509308.1:p.Ala19Gly
ENST00000691077.1:c.56C>G	ENSP00000509843.1:p.Ala19Gly
ENST00000691576.1:c.56C>G	ENSP00000510066.1:p.Ala19Gly
ENST00000691937.1:c.56C>G	ENSP00000508768.1:p.Ala19Gly
ENST00000692487.1:c.56C>G	ENSP00000509534.1:p.Ala19Gly
ENST00000307102.10:c.56C>G MANE Select	ENSP00000302486.5:p.Ala19Gly
ENST00000307102.9:c.56C>G	ENSP00000302486.4:p.Ala19Gly
ENST00000425818.2:n.567C>G
NM_002755.3:c.56C>G , LRG_725t1:c.56C>G	NP_002746.1:p.Ala19Gly
XM_017022411.2:c.56C>G	XP_016877900.1:p.Ala19Gly
NM_002755.4:c.56C>G MANE Select	NP_002746.1:p.Ala19Gly