Canonical Allele Identifier: CA7623996

Gene: MAP2K1

Linked Data

• ClinVar Variation Id: 2828735
• ClinVar RCV Id: RCV003655824
• dbSNP Id: rs761324501
• ExAC: 15:66774173 G / A
• gnomAD v2: 15-66774173-G-A
• gnomAD v4: 15-66481835-G-A
• MyVariant Identifiers: chr15:g.66774173G>A (hg19) ; chr15:g.66481835G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66481835G>A , CM000677.2:g.66481835G>A	GRCh38
NC_000015.9:g.66774173G>A , CM000677.1:g.66774173G>A	GRCh37
NC_000015.8:g.64561227G>A	NCBI36
NG_008305.1:g.99963G>A , LRG_725:g.99963G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684779.1:c.583G>A	ENSP00000508681.1:p.Asp195Asn
ENST00000685172.1:c.649G>A	ENSP00000509604.1:p.Asp217Asn
ENST00000685763.1:c.502G>A	ENSP00000509016.1:p.Asp168Asn
ENST00000686347.1:c.569-5393G>A	ENSP00000509027.1:n.569-5393G>A
ENST00000687191.1:n.1007G>A
ENST00000689951.1:c.700G>A	ENSP00000509308.1:p.Asp234Asn
ENST00000691077.1:c.649G>A	ENSP00000509843.1:p.Asp217Asn
ENST00000691576.1:c.569-3159G>A	ENSP00000510066.1:n.569-3159G>A
ENST00000691937.1:c.649G>A	ENSP00000508768.1:p.Asp217Asn
ENST00000692487.1:c.649G>A	ENSP00000509534.1:p.Asp217Asn
ENST00000692683.1:c.583G>A	ENSP00000508437.1:p.Asp195Asn
ENST00000693150.1:c.505G>A	ENSP00000510309.1:p.Asp169Asn
ENST00000307102.10:c.649G>A MANE Select	ENSP00000302486.5:p.Asp217Asn
ENST00000307102.9:c.649G>A	ENSP00000302486.4:p.Asp217Asn
ENST00000566326.1:c.121G>A	ENSP00000456438.1:p.Asp41Asn
NM_002755.3:c.649G>A , LRG_725t1:c.649G>A	NP_002746.1:p.Asp217Asn
XM_011521783.1:c.583G>A	XP_011520085.1:p.Asp195Asn
XM_011521783.3:c.583G>A	XP_011520085.1:p.Asp195Asn
XM_017022411.2:c.571G>A	XP_016877900.1:p.Asp191Asn
XM_017022412.1:c.505G>A	XP_016877901.1:p.Asp169Asn
XM_017022413.1:c.121G>A	XP_016877902.1:p.Asp41Asn
NM_002755.4:c.649G>A MANE Select	NP_002746.1:p.Asp217Asn