Canonical Allele Identifier: CA2574638619
Gene: ABCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99836383_99836384del , CM000672.2:g.99836383_99836384del GRCh38
NC_000010.10:g.101596140_101596141del , CM000672.1:g.101596140_101596141del GRCh37
NC_000010.9:g.101586130_101586131del NCBI36
NG_011798.1:g.58678_58679del
NG_011798.2:g.58786_58787del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.3614+93_3614+94del MANE Select ENSP00000497274.1:n.3614+93_3614+94del
ENST00000370449.8:c.3614+93_3614+94del ENSP00000359478.4:n.3614+93_3614+94del
NM_000392.4:c.3614+93_3614+94del NP_000383.1:n.3614+93_3614+94del
XM_006717630.2:c.2918+93_2918+94del XP_006717693.1:n.2918+93_2918+94del
XR_945604.1:n.3803+93_3803+94del
XR_945605.1:n.3805+93_3805+94del
NM_000392.5:c.3614+93_3614+94del MANE Select NP_000383.2:n.3614+93_3614+94del
XM_006717630.3:c.2918+93_2918+94del XP_006717693.1:n.2918+93_2918+94del
XR_945604.3:n.3857+93_3857+94del
XR_945605.3:n.3857+93_3857+94del