Canonical Allele Identifier: CA2580082544
Gene: ABCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 39800
ClinVar RCV Id: RCV000008924
dbSNP Id: rs2133078815

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99818791_99818958del , CM000672.2:g.99818791_99818958del GRCh38
NC_000010.10:g.101578548_101578715del , CM000672.1:g.101578548_101578715del GRCh37
NC_000010.9:g.101568538_101568705del NCBI36
NG_011798.1:g.41086_41253del
NG_011798.2:g.41194_41361del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.2273_2439+1del
ENST00000370449.8:c.2273_2439+1del
NM_000392.4:c.2273_2439+1del
XM_006717630.2:c.1577_1743+1del
XM_006717631.2:c.2273_2439+1del
XM_011539291.1:c.2273_2439+1del
XR_945604.1:n.2462_2628+1del
XR_945605.1:n.2464_2630+1del
NM_000392.5:c.2273_2439+1del
XM_006717630.3:c.1577_1743+1del
XM_006717631.4:c.2273_2439+1del
XM_011539291.3:c.2273_2439+1del
XM_017015675.2:c.2273_2439+1del
XR_945604.3:n.2516_2682+1del
XR_945605.3:n.2516_2682+1del