Canonical Allele Identifier: CA490858528
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs1444613968
gnomAD v2: 15-66777441-G-A
gnomAD v4: 15-66485103-G-A
MyVariant Identifiers: chr15:g.66777441G>A (hg19) chr15:g.66485103G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485103G>A , CM000677.2:g.66485103G>A GRCh38
NC_000015.9:g.66777441G>A , CM000677.1:g.66777441G>A GRCh37
NC_000015.8:g.64564495G>A NCBI36
NG_008305.1:g.103231G>A , LRG_725:g.103231G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2125G>A ENSP00000508681.1:n.628-2125G>A
ENST00000685172.1:c.807G>A ENSP00000509604.1:p.Lys269=
ENST00000685763.1:c.660G>A ENSP00000509016.1:p.Lys220=
ENST00000686347.1:c.569-2125G>A ENSP00000509027.1:n.569-2125G>A
ENST00000687191.1:n.1165G>A
ENST00000687481.1:n.222G>A
ENST00000689951.1:c.858G>A ENSP00000509308.1:p.Lys286=
ENST00000691077.1:c.*44G>A ENSP00000509843.1:n.*44G>A
ENST00000691576.1:c.678G>A ENSP00000510066.1:p.Lys226=
ENST00000691937.1:c.807G>A ENSP00000508768.1:p.Lys269=
ENST00000692487.1:c.*44G>A ENSP00000509534.1:n.*44G>A
ENST00000692683.1:c.741G>A ENSP00000508437.1:p.Lys247=
ENST00000693150.1:c.663G>A ENSP00000510309.1:p.Lys221=
ENST00000307102.10:c.807G>A MANE Select ENSP00000302486.5:p.Lys269=
ENST00000307102.9:c.807G>A ENSP00000302486.4:p.Lys269=
ENST00000566326.1:c.279G>A ENSP00000456438.1:p.Lys93=
NM_002755.3:c.807G>A , LRG_725t1:c.807G>A NP_002746.1:p.Lys269=
XM_011521783.1:c.741G>A XP_011520085.1:p.Lys247=
XM_011521783.3:c.741G>A XP_011520085.1:p.Lys247=
XM_017022411.2:c.729G>A XP_016877900.1:p.Lys243=
XM_017022412.1:c.663G>A XP_016877901.1:p.Lys221=
XM_017022413.1:c.279G>A XP_016877902.1:p.Lys93=
NM_002755.4:c.807G>A MANE Select NP_002746.1:p.Lys269=
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