Canonical Allele Identifier: CA392930891

Gene: MAP2K1

Linked Data

• dbSNP Id: rs1271363673
• gnomAD v3: 15-66436860-G-A
• gnomAD v4: 15-66436860-G-A
• COSMIC: COSM5009261
• MyVariant Identifiers: chr15:g.66729198G>A (hg19) ; chr15:g.66436860G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66436860G>A , CM000677.2:g.66436860G>A	GRCh38
NC_000015.9:g.66729198G>A , CM000677.1:g.66729198G>A	GRCh37
NC_000015.8:g.64516252G>A	NCBI36
NG_008305.1:g.54988G>A , LRG_725:g.54988G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.340G>A	ENSP00000508681.1:p.Asp114Asn
ENST00000685172.1:c.406G>A	ENSP00000509604.1:p.Asp136Asn
ENST00000685763.1:c.291+1623G>A	ENSP00000509016.1:n.291+1623G>A
ENST00000686347.1:c.406G>A	ENSP00000509027.1:p.Asp136Asn
ENST00000687191.1:n.842G>A
ENST00000689951.1:c.406G>A	ENSP00000509308.1:p.Asp136Asn
ENST00000691077.1:c.406G>A	ENSP00000509843.1:p.Asp136Asn
ENST00000691576.1:c.406G>A	ENSP00000510066.1:p.Asp136Asn
ENST00000691937.1:c.406G>A	ENSP00000508768.1:p.Asp136Asn
ENST00000692487.1:c.406G>A	ENSP00000509534.1:p.Asp136Asn
ENST00000692683.1:c.340G>A	ENSP00000508437.1:p.Asp114Asn
ENST00000693150.1:c.340G>A	ENSP00000510309.1:p.Asp114Asn
ENST00000307102.10:c.406G>A MANE Select	ENSP00000302486.5:p.Asp136Asn
ENST00000307102.9:c.406G>A	ENSP00000302486.4:p.Asp136Asn
ENST00000425818.2:n.917G>A
NM_002755.3:c.406G>A , LRG_725t1:c.406G>A	NP_002746.1:p.Asp136Asn
XM_011521783.1:c.340G>A	XP_011520085.1:p.Asp114Asn
XM_011521783.3:c.340G>A	XP_011520085.1:p.Asp114Asn
XM_017022411.2:c.406G>A	XP_016877900.1:p.Asp136Asn
XM_017022412.1:c.340G>A	XP_016877901.1:p.Asp114Asn
NM_002755.4:c.406G>A MANE Select	NP_002746.1:p.Asp136Asn