Canonical Allele Identifier: CA392937228

Gene: MAP2K1

Linked Data

• gnomAD v4: 15-66485096-A-G
• MyVariant Identifiers: chr15:g.66777434A>G (hg19) ; chr15:g.66485096A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66485096A>G , CM000677.2:g.66485096A>G	GRCh38
NC_000015.9:g.66777434A>G , CM000677.1:g.66777434A>G	GRCh37
NC_000015.8:g.64564488A>G	NCBI36
NG_008305.1:g.103224A>G , LRG_725:g.103224A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.628-2132A>G	ENSP00000508681.1:n.628-2132A>G
ENST00000685172.1:c.800A>G	ENSP00000509604.1:p.Asp267Gly
ENST00000685763.1:c.653A>G	ENSP00000509016.1:p.Asp218Gly
ENST00000686347.1:c.569-2132A>G	ENSP00000509027.1:n.569-2132A>G
ENST00000687191.1:n.1158A>G
ENST00000687481.1:n.215A>G
ENST00000689951.1:c.851A>G	ENSP00000509308.1:p.Asp284Gly
ENST00000691077.1:c.*37A>G	ENSP00000509843.1:n.*37A>G
ENST00000691576.1:c.671A>G	ENSP00000510066.1:p.Asp224Gly
ENST00000691937.1:c.800A>G	ENSP00000508768.1:p.Asp267Gly
ENST00000692487.1:c.*37A>G	ENSP00000509534.1:n.*37A>G
ENST00000692683.1:c.734A>G	ENSP00000508437.1:p.Asp245Gly
ENST00000693150.1:c.656A>G	ENSP00000510309.1:p.Asp219Gly
ENST00000307102.10:c.800A>G MANE Select	ENSP00000302486.5:p.Asp267Gly
ENST00000307102.9:c.800A>G	ENSP00000302486.4:p.Asp267Gly
ENST00000566326.1:c.272A>G	ENSP00000456438.1:p.Asp91Gly
NM_002755.3:c.800A>G , LRG_725t1:c.800A>G	NP_002746.1:p.Asp267Gly
XM_011521783.1:c.734A>G	XP_011520085.1:p.Asp245Gly
XM_011521783.3:c.734A>G	XP_011520085.1:p.Asp245Gly
XM_017022411.2:c.722A>G	XP_016877900.1:p.Asp241Gly
XM_017022412.1:c.656A>G	XP_016877901.1:p.Asp219Gly
XM_017022413.1:c.272A>G	XP_016877902.1:p.Asp91Gly
NM_002755.4:c.800A>G MANE Select	NP_002746.1:p.Asp267Gly