Canonical Allele Identifier: CA2610498398
Gene: ABCC2 HGNC NCBI

Linked Data

gnomAD v4: 10-99851558-TA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99851559del , CM000672.2:g.99851559del GRCh38
NC_000010.10:g.101611316del , CM000672.1:g.101611316del GRCh37
NC_000010.9:g.101601306del NCBI36
NG_011798.1:g.73854del
NG_011798.2:g.73962del

Transcript Alleles

HGVS Amino-acid change
ENST00000647814.1:c.4566del MANE Select ENSP00000497274.1:p.Gln1523LysfsTer18
ENST00000648523.1:c.636del
ENST00000370449.8:c.4566del ENSP00000359478.4:p.Gln1523LysfsTer18
NM_000392.4:c.4566del NP_000383.1:p.Gln1523LysfsTer18
XM_006717630.2:c.3870del XP_006717693.1:p.Gln1291LysfsTer18
NM_000392.5:c.4566del MANE Select NP_000383.2:p.Gln1523LysfsTer18
XM_006717630.3:c.3870del XP_006717693.1:p.Gln1291LysfsTer18
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