Canonical Allele Identifier: CA271671674
Gene: MAP2K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2686012
ClinVar RCV Id: RCV003991601
dbSNP Id: rs1019098903
MyVariant Identifiers: chr15:g.66774159G>C (hg19) chr15:g.66481821G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66481821G>C , CM000677.2:g.66481821G>C GRCh38
NC_000015.9:g.66774159G>C , CM000677.1:g.66774159G>C GRCh37
NC_000015.8:g.64561213G>C NCBI36
NG_008305.1:g.99949G>C , LRG_725:g.99949G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.569G>C ENSP00000508681.1:p.Ser190Thr
ENST00000685172.1:c.635G>C ENSP00000509604.1:p.Ser212Thr
ENST00000685763.1:c.488G>C ENSP00000509016.1:p.Ser163Thr
ENST00000686347.1:c.569-5407G>C ENSP00000509027.1:n.569-5407G>C
ENST00000687191.1:n.993G>C
ENST00000689951.1:c.686G>C ENSP00000509308.1:p.Ser229Thr
ENST00000691077.1:c.635G>C ENSP00000509843.1:p.Ser212Thr
ENST00000691576.1:c.569-3173G>C ENSP00000510066.1:n.569-3173G>C
ENST00000691937.1:c.635G>C ENSP00000508768.1:p.Ser212Thr
ENST00000692487.1:c.635G>C ENSP00000509534.1:p.Ser212Thr
ENST00000692683.1:c.569G>C ENSP00000508437.1:p.Ser190Thr
ENST00000693150.1:c.491G>C ENSP00000510309.1:p.Ser164Thr
ENST00000307102.10:c.635G>C MANE Select ENSP00000302486.5:p.Ser212Thr
ENST00000307102.9:c.635G>C ENSP00000302486.4:p.Ser212Thr
ENST00000566326.1:c.107G>C ENSP00000456438.1:p.Ser36Thr
NM_002755.3:c.635G>C , LRG_725t1:c.635G>C NP_002746.1:p.Ser212Thr
XM_011521783.1:c.569G>C XP_011520085.1:p.Ser190Thr
XM_011521783.3:c.569G>C XP_011520085.1:p.Ser190Thr
XM_017022411.2:c.557G>C XP_016877900.1:p.Ser186Thr
XM_017022412.1:c.491G>C XP_016877901.1:p.Ser164Thr
XM_017022413.1:c.107G>C XP_016877902.1:p.Ser36Thr
NM_002755.4:c.635G>C MANE Select NP_002746.1:p.Ser212Thr
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