Canonical Allele Identifier: CA304968685
Community Standard Title: NM_145185.4(MAP2K7):c.346G>A (p.Glu116Lys)
Gene: MAP2K7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7910272G>A , CM000681.2:g.7910272G>A GRCh38
NC_000019.9:g.7975157G>A , CM000681.1:g.7975157G>A GRCh37
NC_000019.8:g.7881157G>A NCBI36
NG_029438.1:g.11393G>A
NG_029438.2:g.11393G>A

Transcript Alleles

HGVS Amino-acid Change
NM_145185.4:c.346G>A MANE Select NP_660186.1:p.Glu116Lys
ENST00000397979.4:c.346G>A MANE Select ENSP00000381066.3:p.Glu116Lys
NM_001297555.1:c.394G>A NP_001284484.1:p.Glu132Lys
NM_001297555.2:c.394G>A NP_001284484.1:p.Glu132Lys
NM_001297556.1:c.346G>A NP_001284485.1:p.Glu116Lys
NM_001297556.2:c.346G>A NP_001284485.1:p.Glu116Lys
NM_145185.3:c.346G>A NP_660186.1:p.Glu116Lys
ENST00000397979.3:c.346G>A ENSP00000381066.3:p.Glu116Lys
ENST00000397981.7:c.346G>A ENSP00000381068.3:p.Glu116Lys
ENST00000397983.7:c.394G>A ENSP00000381070.2:p.Glu132Lys
ENST00000465324.1:n.59G>A
ENST00000468058.1:n.541G>A
ENST00000494348.1:n.67G>A
XM_006722800.2:c.394G>A XP_006722863.1:p.Glu132Lys
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