Canonical Allele Identifier: CA392936443
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140668130
gnomAD v4: 15-66481848-A-C
MyVariant Identifiers: chr15:g.66774186A>C (hg19) chr15:g.66481848A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66481848A>C , CM000677.2:g.66481848A>C GRCh38
NC_000015.9:g.66774186A>C , CM000677.1:g.66774186A>C GRCh37
NC_000015.8:g.64561240A>C NCBI36
NG_008305.1:g.99976A>C , LRG_725:g.99976A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.596A>C ENSP00000508681.1:p.Asn199Thr
ENST00000685172.1:c.662A>C ENSP00000509604.1:p.Asn221Thr
ENST00000685763.1:c.515A>C ENSP00000509016.1:p.Asn172Thr
ENST00000686347.1:c.569-5380A>C ENSP00000509027.1:n.569-5380A>C
ENST00000687191.1:n.1020A>C
ENST00000689951.1:c.713A>C ENSP00000509308.1:p.Asn238Thr
ENST00000691077.1:c.662A>C ENSP00000509843.1:p.Asn221Thr
ENST00000691576.1:c.569-3146A>C ENSP00000510066.1:n.569-3146A>C
ENST00000691937.1:c.662A>C ENSP00000508768.1:p.Asn221Thr
ENST00000692487.1:c.662A>C ENSP00000509534.1:p.Asn221Thr
ENST00000692683.1:c.596A>C ENSP00000508437.1:p.Asn199Thr
ENST00000693150.1:c.518A>C ENSP00000510309.1:p.Asn173Thr
ENST00000307102.10:c.662A>C MANE Select ENSP00000302486.5:p.Asn221Thr
ENST00000307102.9:c.662A>C ENSP00000302486.4:p.Asn221Thr
ENST00000566326.1:c.134A>C ENSP00000456438.1:p.Asn45Thr
NM_002755.3:c.662A>C , LRG_725t1:c.662A>C NP_002746.1:p.Asn221Thr
XM_011521783.1:c.596A>C XP_011520085.1:p.Asn199Thr
XM_011521783.3:c.596A>C XP_011520085.1:p.Asn199Thr
XM_017022411.2:c.584A>C XP_016877900.1:p.Asn195Thr
XM_017022412.1:c.518A>C XP_016877901.1:p.Asn173Thr
XM_017022413.1:c.134A>C XP_016877902.1:p.Asn45Thr
NM_002755.4:c.662A>C MANE Select NP_002746.1:p.Asn221Thr
Search 100 bp 5'
Search 100 bp 3'