Canonical Allele Identifier: CA2789199769
Gene: ABCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99844681_99844683del , CM000672.2:g.99844681_99844683del GRCh38
NC_000010.10:g.101604438_101604440del , CM000672.1:g.101604438_101604440del GRCh37
NC_000010.9:g.101594428_101594430del NCBI36
NG_011798.1:g.66976_66978del
NG_011798.2:g.67084_67086del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.3987+216_3987+218del MANE Select ENSP00000497274.1:n.3987+216_3987+218del
ENST00000649459.1:n.335+216_335+218del
ENST00000370449.8:c.3987+216_3987+218del ENSP00000359478.4:n.3987+216_3987+218del
NM_000392.4:c.3987+216_3987+218del NP_000383.1:n.3987+216_3987+218del
XM_006717630.2:c.3291+216_3291+218del XP_006717693.1:n.3291+216_3291+218del
XR_945604.1:n.4176+216_4176+218del
XR_945605.1:n.4051+216_4051+218del
NM_000392.5:c.3987+216_3987+218del MANE Select NP_000383.2:n.3987+216_3987+218del
XM_006717630.3:c.3291+216_3291+218del XP_006717693.1:n.3291+216_3291+218del
XR_945604.3:n.4230+216_4230+218del
XR_945605.3:n.4103+216_4103+218del