Canonical Allele Identifier: CA970930469

Gene: MAP2K1

Linked Data

• dbSNP Id: rs2093488617
• gnomAD v3: 15-66436597-T-G
• gnomAD v4: 15-66436597-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66436597T>G , CM000677.2:g.66436597T>G	GRCh38
NC_000015.9:g.66728935T>G , CM000677.1:g.66728935T>G	GRCh37
NC_000015.8:g.64515989T>G	NCBI36
NG_008305.1:g.54725T>G , LRG_725:g.54725T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.226-149T>G	ENSP00000508681.1:n.226-149T>G
ENST00000685172.1:c.292-149T>G	ENSP00000509604.1:n.292-149T>G
ENST00000685763.1:c.291+1360T>G	ENSP00000509016.1:n.291+1360T>G
ENST00000686347.1:c.292-149T>G	ENSP00000509027.1:n.292-149T>G
ENST00000687191.1:n.728-149T>G
ENST00000689951.1:c.292-149T>G	ENSP00000509308.1:n.292-149T>G
ENST00000691077.1:c.292-149T>G	ENSP00000509843.1:n.292-149T>G
ENST00000691576.1:c.292-149T>G	ENSP00000510066.1:n.292-149T>G
ENST00000691937.1:c.292-149T>G	ENSP00000508768.1:n.292-149T>G
ENST00000692487.1:c.292-149T>G	ENSP00000509534.1:n.292-149T>G
ENST00000692683.1:c.226-149T>G	ENSP00000508437.1:n.226-149T>G
ENST00000693150.1:c.226-149T>G	ENSP00000510309.1:n.226-149T>G
ENST00000307102.10:c.292-149T>G MANE Select	ENSP00000302486.5:n.292-149T>G
ENST00000307102.9:c.292-149T>G	ENSP00000302486.4:n.292-149T>G
ENST00000425818.2:n.803-149T>G
NM_002755.3:c.292-149T>G , LRG_725t1:c.292-149T>G	NP_002746.1:n.292-149T>G
XM_011521783.1:c.226-149T>G	XP_011520085.1:n.226-149T>G
XM_011521783.3:c.226-149T>G	XP_011520085.1:n.226-149T>G
XM_017022411.2:c.292-149T>G	XP_016877900.1:n.292-149T>G
XM_017022412.1:c.226-149T>G	XP_016877901.1:n.226-149T>G
NM_002755.4:c.292-149T>G MANE Select	NP_002746.1:n.292-149T>G