Canonical Allele Identifier: CA134616
Gene: MAP2K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 44591
ClinVar RCV Id: RCV000037600 RCV000655000 RCV001588850 RCV002381305 RCV004541111
dbSNP Id: rs373745627
ExAC: 15:66777360 G / T
gnomAD v2: 15-66777360-G-T
gnomAD v3: 15-66485022-G-T
gnomAD v4: 15-66485022-G-T
MyVariant Identifiers: chr15:g.66777360G>T (hg19) chr15:g.66485022G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485022G>T , CM000677.2:g.66485022G>T GRCh38
NC_000015.9:g.66777360G>T , CM000677.1:g.66777360G>T GRCh37
NC_000015.8:g.64564414G>T NCBI36
NG_008305.1:g.103150G>T , LRG_725:g.103150G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2206G>T ENSP00000508681.1:n.628-2206G>T
ENST00000685172.1:c.726G>T ENSP00000509604.1:p.Val242=
ENST00000685763.1:c.579G>T ENSP00000509016.1:p.Val193=
ENST00000686347.1:c.569-2206G>T ENSP00000509027.1:n.569-2206G>T
ENST00000687191.1:n.1084G>T
ENST00000687481.1:n.141G>T
ENST00000689951.1:c.777G>T ENSP00000509308.1:p.Val259=
ENST00000691077.1:c.722G>T ENSP00000509843.1:p.Cys241Phe
ENST00000691576.1:c.597G>T ENSP00000510066.1:p.Val199=
ENST00000691937.1:c.726G>T ENSP00000508768.1:p.Val242=
ENST00000692487.1:c.722G>T ENSP00000509534.1:p.Cys241Phe
ENST00000692683.1:c.660G>T ENSP00000508437.1:p.Val220=
ENST00000693150.1:c.582G>T ENSP00000510309.1:p.Val194=
ENST00000307102.10:c.726G>T MANE Select ENSP00000302486.5:p.Val242=
ENST00000307102.9:c.726G>T ENSP00000302486.4:p.Val242=
ENST00000566326.1:c.198G>T ENSP00000456438.1:p.Val66=
NM_002755.3:c.726G>T , LRG_725t1:c.726G>T NP_002746.1:p.Val242=
XM_011521783.1:c.660G>T XP_011520085.1:p.Val220=
XM_011521783.3:c.660G>T XP_011520085.1:p.Val220=
XM_017022411.2:c.648G>T XP_016877900.1:p.Val216=
XM_017022412.1:c.582G>T XP_016877901.1:p.Val194=
XM_017022413.1:c.198G>T XP_016877902.1:p.Val66=
NM_002755.4:c.726G>T MANE Select NP_002746.1:p.Val242=
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