Canonical Allele Identifier: CA2659641889
Gene: ACTG2 HGNC NCBI

Linked Data

gnomAD v4: 2-73914827-AGCGCTTCCGCTGCC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73914828_73914841del , CM000664.2:g.73914828_73914841del GRCh38
NC_000002.11:g.74141955_74141968del , CM000664.1:g.74141955_74141968del GRCh37
NC_000002.10:g.73995463_73995476del NCBI36
NG_034140.1:g.26863_26876del

Transcript Alleles

HGVS Amino-acid Change
ENST00000345517.8:c.762_775del MANE Select ENSP00000295137.3:p.Glu254AspfsTer2
ENST00000345517.7:c.762_775del ENSP00000295137.3:p.Glu254AspfsTer2
ENST00000409624.1:c.762_775del ENSP00000386857.1:p.Glu254AspfsTer2
ENST00000409731.7:c.633_646del ENSP00000386929.3:p.Glu211AspfsTer2
ENST00000438902.6:c.*827_*840del ENSP00000410706.2:n.*827_*840del
NM_001199893.1:c.633_646del NP_001186822.1:p.Glu211AspfsTer2
NM_001615.3:c.762_775del NP_001606.1:p.Glu254AspfsTer2
NM_001199893.2:c.633_646del NP_001186822.1:p.Glu211AspfsTer2
NM_001615.4:c.762_775del MANE Select NP_001606.1:p.Glu254AspfsTer2
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