Canonical Allele Identifier: CA392936370

Gene: MAP2K1

Linked Data

• MyVariant Identifiers: chr15:g.66774168T>G (hg19) ; chr15:g.66481830T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66481830T>G , CM000677.2:g.66481830T>G	GRCh38
NC_000015.9:g.66774168T>G , CM000677.1:g.66774168T>G	GRCh37
NC_000015.8:g.64561222T>G	NCBI36
NG_008305.1:g.99958T>G , LRG_725:g.99958T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684779.1:c.578T>G	ENSP00000508681.1:p.Leu193Arg
ENST00000685172.1:c.644T>G	ENSP00000509604.1:p.Leu215Arg
ENST00000685763.1:c.497T>G	ENSP00000509016.1:p.Leu166Arg
ENST00000686347.1:c.569-5398T>G	ENSP00000509027.1:n.569-5398T>G
ENST00000687191.1:n.1002T>G
ENST00000689951.1:c.695T>G	ENSP00000509308.1:p.Leu232Arg
ENST00000691077.1:c.644T>G	ENSP00000509843.1:p.Leu215Arg
ENST00000691576.1:c.569-3164T>G	ENSP00000510066.1:n.569-3164T>G
ENST00000691937.1:c.644T>G	ENSP00000508768.1:p.Leu215Arg
ENST00000692487.1:c.644T>G	ENSP00000509534.1:p.Leu215Arg
ENST00000692683.1:c.578T>G	ENSP00000508437.1:p.Leu193Arg
ENST00000693150.1:c.500T>G	ENSP00000510309.1:p.Leu167Arg
ENST00000307102.10:c.644T>G MANE Select	ENSP00000302486.5:p.Leu215Arg
ENST00000307102.9:c.644T>G	ENSP00000302486.4:p.Leu215Arg
ENST00000566326.1:c.116T>G	ENSP00000456438.1:p.Leu39Arg
NM_002755.3:c.644T>G , LRG_725t1:c.644T>G	NP_002746.1:p.Leu215Arg
XM_011521783.1:c.578T>G	XP_011520085.1:p.Leu193Arg
XM_011521783.3:c.578T>G	XP_011520085.1:p.Leu193Arg
XM_017022411.2:c.566T>G	XP_016877900.1:p.Leu189Arg
XM_017022412.1:c.500T>G	XP_016877901.1:p.Leu167Arg
XM_017022413.1:c.116T>G	XP_016877902.1:p.Leu39Arg
NM_002755.4:c.644T>G MANE Select	NP_002746.1:p.Leu215Arg