Canonical Allele Identifier: CA7624011
Gene: MAP2K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1674639
ClinVar RCV Id: RCV002208408
dbSNP Id: rs768336682
ExAC: 15:66777319 C / T
gnomAD v2: 15-66777319-C-T
gnomAD v4: 15-66484981-C-T
MyVariant Identifiers: chr15:g.66777319C>T (hg19) chr15:g.66484981C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66484981C>T , CM000677.2:g.66484981C>T GRCh38
NC_000015.9:g.66777319C>T , CM000677.1:g.66777319C>T GRCh37
NC_000015.8:g.64564373C>T NCBI36
NG_008305.1:g.103109C>T , LRG_725:g.103109C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2247C>T ENSP00000508681.1:n.628-2247C>T
ENST00000685172.1:c.694-9C>T ENSP00000509604.1:n.694-9C>T
ENST00000685763.1:c.547-9C>T ENSP00000509016.1:n.547-9C>T
ENST00000686347.1:c.569-2247C>T ENSP00000509027.1:n.569-2247C>T
ENST00000687191.1:n.1052-9C>T
ENST00000687481.1:n.100C>T
ENST00000689951.1:c.745-9C>T ENSP00000509308.1:n.745-9C>T
ENST00000691077.1:c.694-13C>T ENSP00000509843.1:n.694-13C>T
ENST00000691576.1:c.569-13C>T ENSP00000510066.1:n.569-13C>T
ENST00000691937.1:c.694-9C>T ENSP00000508768.1:n.694-9C>T
ENST00000692487.1:c.694-13C>T ENSP00000509534.1:n.694-13C>T
ENST00000692683.1:c.628-9C>T ENSP00000508437.1:n.628-9C>T
ENST00000693150.1:c.550-9C>T ENSP00000510309.1:n.550-9C>T
ENST00000307102.10:c.694-9C>T MANE Select ENSP00000302486.5:n.694-9C>T
ENST00000307102.9:c.694-9C>T ENSP00000302486.4:n.694-9C>T
ENST00000566326.1:c.166-9C>T ENSP00000456438.1:n.166-9C>T
NM_002755.3:c.694-9C>T , LRG_725t1:c.694-9C>T NP_002746.1:n.694-9C>T
XM_011521783.1:c.628-9C>T XP_011520085.1:n.628-9C>T
XM_011521783.3:c.628-9C>T XP_011520085.1:n.628-9C>T
XM_017022411.2:c.616-9C>T XP_016877900.1:n.616-9C>T
XM_017022412.1:c.550-9C>T XP_016877901.1:n.550-9C>T
XM_017022413.1:c.166-9C>T XP_016877902.1:n.166-9C>T
NM_002755.4:c.694-9C>T MANE Select NP_002746.1:n.694-9C>T
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