Canonical Allele Identifier: CA595452607
Gene: ABCC2 HGNC NCBI

Linked Data

dbSNP Id: rs1564697579

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99836134_99836135del , CM000672.2:g.99836134_99836135del GRCh38
NC_000010.10:g.101595891_101595892del , CM000672.1:g.101595891_101595892del GRCh37
NC_000010.9:g.101585881_101585882del NCBI36
NG_011798.1:g.58429_58430del
NG_011798.2:g.58537_58538del

Transcript Alleles

HGVS Amino-acid change
ENST00000647814.1:c.3458_3459del MANE Select ENSP00000497274.1:p.Ser1153CysfsTer24
ENST00000370449.8:c.3458_3459del ENSP00000359478.4:p.Ser1153CysfsTer24
NM_000392.4:c.3458_3459del NP_000383.1:p.Ser1153CysfsTer24
XM_006717630.2:c.2762_2763del XP_006717693.1:p.Ser921CysfsTer24
XR_945604.1:n.3647_3648del
XR_945605.1:n.3649_3650del
NM_000392.5:c.3458_3459del MANE Select NP_000383.2:p.Ser1153CysfsTer24
XM_006717630.3:c.2762_2763del XP_006717693.1:p.Ser921CysfsTer24
XR_945604.3:n.3701_3702del
XR_945605.3:n.3701_3702del