Canonical Allele Identifier: CA970941089

Gene: MAP2K1

Linked Data

• dbSNP Id: rs1893003475
• gnomAD v3: 15-66484987-C-G
• gnomAD v4: 15-66484987-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66484987C>G , CM000677.2:g.66484987C>G	GRCh38
NC_000015.9:g.66777325C>G , CM000677.1:g.66777325C>G	GRCh37
NC_000015.8:g.64564379C>G	NCBI36
NG_008305.1:g.103115C>G , LRG_725:g.103115C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684779.1:c.628-2241C>G	ENSP00000508681.1:n.628-2241C>G
ENST00000685172.1:c.694-3C>G	ENSP00000509604.1:n.694-3C>G
ENST00000685763.1:c.547-3C>G	ENSP00000509016.1:n.547-3C>G
ENST00000686347.1:c.569-2241C>G	ENSP00000509027.1:n.569-2241C>G
ENST00000687191.1:n.1052-3C>G
ENST00000687481.1:n.106C>G
ENST00000689951.1:c.745-3C>G	ENSP00000509308.1:n.745-3C>G
ENST00000691077.1:c.694-7C>G	ENSP00000509843.1:n.694-7C>G
ENST00000691576.1:c.569-7C>G	ENSP00000510066.1:n.569-7C>G
ENST00000691937.1:c.694-3C>G	ENSP00000508768.1:n.694-3C>G
ENST00000692487.1:c.694-7C>G	ENSP00000509534.1:n.694-7C>G
ENST00000692683.1:c.628-3C>G	ENSP00000508437.1:n.628-3C>G
ENST00000693150.1:c.550-3C>G	ENSP00000510309.1:n.550-3C>G
ENST00000307102.10:c.694-3C>G MANE Select	ENSP00000302486.5:n.694-3C>G
ENST00000307102.9:c.694-3C>G	ENSP00000302486.4:n.694-3C>G
ENST00000566326.1:c.166-3C>G	ENSP00000456438.1:n.166-3C>G
NM_002755.3:c.694-3C>G , LRG_725t1:c.694-3C>G	NP_002746.1:n.694-3C>G
XM_011521783.1:c.628-3C>G	XP_011520085.1:n.628-3C>G
XM_011521783.3:c.628-3C>G	XP_011520085.1:n.628-3C>G
XM_017022411.2:c.616-3C>G	XP_016877900.1:n.616-3C>G
XM_017022412.1:c.550-3C>G	XP_016877901.1:n.550-3C>G
XM_017022413.1:c.166-3C>G	XP_016877902.1:n.166-3C>G
NM_002755.4:c.694-3C>G MANE Select	NP_002746.1:n.694-3C>G