Canonical Allele Identifier: CA271674064
Gene: MAP2K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 632243
ClinVar RCV Id: RCV004527801
dbSNP Id: rs1007782463
MyVariant Identifiers: chr15:g.66777365C>G (hg19) chr15:g.66485027C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485027C>G , CM000677.2:g.66485027C>G GRCh38
NC_000015.9:g.66777365C>G , CM000677.1:g.66777365C>G GRCh37
NC_000015.8:g.64564419C>G NCBI36
NG_008305.1:g.103155C>G , LRG_725:g.103155C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2201C>G ENSP00000508681.1:n.628-2201C>G
ENST00000685172.1:c.731C>G ENSP00000509604.1:p.Ser244Ter
ENST00000685763.1:c.584C>G ENSP00000509016.1:p.Ser195Ter
ENST00000686347.1:c.569-2201C>G ENSP00000509027.1:n.569-2201C>G
ENST00000687191.1:n.1089C>G
ENST00000687481.1:n.146C>G
ENST00000689951.1:c.782C>G ENSP00000509308.1:p.Ser261Ter
ENST00000691077.1:c.727C>G ENSP00000509843.1:p.Gln243Glu
ENST00000691576.1:c.602C>G ENSP00000510066.1:p.Ser201Ter
ENST00000691937.1:c.731C>G ENSP00000508768.1:p.Ser244Ter
ENST00000692487.1:c.727C>G ENSP00000509534.1:p.Gln243Glu
ENST00000692683.1:c.665C>G ENSP00000508437.1:p.Ser222Ter
ENST00000693150.1:c.587C>G ENSP00000510309.1:p.Ser196Ter
ENST00000307102.10:c.731C>G MANE Select ENSP00000302486.5:p.Ser244Ter
ENST00000307102.9:c.731C>G ENSP00000302486.4:p.Ser244Ter
ENST00000566326.1:c.203C>G ENSP00000456438.1:p.Ser68Ter
NM_002755.3:c.731C>G , LRG_725t1:c.731C>G NP_002746.1:p.Ser244Ter
XM_011521783.1:c.665C>G XP_011520085.1:p.Ser222Ter
XM_011521783.3:c.665C>G XP_011520085.1:p.Ser222Ter
XM_017022411.2:c.653C>G XP_016877900.1:p.Ser218Ter
XM_017022412.1:c.587C>G XP_016877901.1:p.Ser196Ter
XM_017022413.1:c.203C>G XP_016877902.1:p.Ser68Ter
NM_002755.4:c.731C>G MANE Select NP_002746.1:p.Ser244Ter
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