Canonical Allele Identifier: CA356995

Gene: MAP2K1

Linked Data

• ClinVar Variation Id: 223140
• ClinVar RCV Id: RCV000208748 ; RCV000428485 ; RCV000421288 ; RCV000438528 ; RCV002051691 ; RCV002254287
• dbSNP Id: rs869025608
• COSMIC: COSM1235478
• MyVariant Identifiers: chr15:g.66727455G>T (hg19) ; chr15:g.66435117G>T (hg38)
• CIViC: CA356995
• PubMed: PMID:18632602 ; PMID:20301365 ; PMID:23444215 ; PMID:25157968

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66435117G>T , CM000677.2:g.66435117G>T	GRCh38
NC_000015.9:g.66727455G>T , CM000677.1:g.66727455G>T	GRCh37
NC_000015.8:g.64514509G>T	NCBI36
NG_008305.1:g.53245G>T , LRG_725:g.53245G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.105G>T	ENSP00000508681.1:p.Lys35Asn
ENST00000685172.1:c.171G>T	ENSP00000509604.1:p.Lys57Asn
ENST00000685763.1:c.171G>T	ENSP00000509016.1:p.Lys57Asn
ENST00000686347.1:c.171G>T	ENSP00000509027.1:p.Lys57Asn
ENST00000687191.1:n.607G>T
ENST00000689951.1:c.171G>T	ENSP00000509308.1:p.Lys57Asn
ENST00000691077.1:c.171G>T	ENSP00000509843.1:p.Lys57Asn
ENST00000691576.1:c.171G>T	ENSP00000510066.1:p.Lys57Asn
ENST00000691937.1:c.171G>T	ENSP00000508768.1:p.Lys57Asn
ENST00000692487.1:c.171G>T	ENSP00000509534.1:p.Lys57Asn
ENST00000692683.1:c.105G>T	ENSP00000508437.1:p.Lys35Asn
ENST00000693150.1:c.105G>T	ENSP00000510309.1:p.Lys35Asn
ENST00000307102.10:c.171G>T MANE Select	ENSP00000302486.5:p.Lys57Asn
ENST00000307102.9:c.171G>T	ENSP00000302486.4:p.Lys57Asn
ENST00000425818.2:n.682G>T
NM_002755.3:c.171G>T , LRG_725t1:c.171G>T	NP_002746.1:p.Lys57Asn
XM_011521783.1:c.105G>T	XP_011520085.1:p.Lys35Asn
XM_011521783.3:c.105G>T	XP_011520085.1:p.Lys35Asn
XM_017022411.2:c.171G>T	XP_016877900.1:p.Lys57Asn
XM_017022412.1:c.105G>T	XP_016877901.1:p.Lys35Asn
NM_002755.4:c.171G>T MANE Select	NP_002746.1:p.Lys57Asn