Canonical Allele Identifier: CA2610497262
Gene: ABCC2 HGNC NCBI

Linked Data

gnomAD v4: 10-99836134-C-CT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99836135dup , CM000672.2:g.99836135dup GRCh38
NC_000010.10:g.101595892dup , CM000672.1:g.101595892dup GRCh37
NC_000010.9:g.101585882dup NCBI36
NG_011798.1:g.58430dup
NG_011798.2:g.58538dup

Transcript Alleles

HGVS Amino-acid change
ENST00000647814.1:c.3459dup MANE Select ENSP00000497274.1:p.Val1154CysfsTer24
ENST00000370449.8:c.3459dup ENSP00000359478.4:p.Val1154CysfsTer24
NM_000392.4:c.3459dup NP_000383.1:p.Val1154CysfsTer24
XM_006717630.2:c.2763dup XP_006717693.1:p.Val922CysfsTer24
XR_945604.1:n.3648dup
XR_945605.1:n.3650dup
NM_000392.5:c.3459dup MANE Select NP_000383.2:p.Val1154CysfsTer24
XM_006717630.3:c.2763dup XP_006717693.1:p.Val922CysfsTer24
XR_945604.3:n.3702dup
XR_945605.3:n.3702dup
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