Canonical Allele Identifier: CA2572575670
Gene: ABCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99844351_99844353del , CM000672.2:g.99844351_99844353del GRCh38
NC_000010.10:g.101604108_101604110del , CM000672.1:g.101604108_101604110del GRCh37
NC_000010.9:g.101594098_101594100del NCBI36
NG_011798.1:g.66646_66648del
NG_011798.2:g.66754_66756del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.3873_3875del MANE Select ENSP00000497274.1:p.Pro1292del
ENST00000649459.1:n.221_223del
ENST00000370449.8:c.3873_3875del ENSP00000359478.4:p.Pro1292del
NM_000392.4:c.3873_3875del NP_000383.1:p.Pro1292del
XM_006717630.2:c.3177_3179del XP_006717693.1:p.Pro1060del
XR_945604.1:n.4062_4064del
XR_945605.1:n.3937_3939del
NM_000392.5:c.3873_3875del MANE Select NP_000383.2:p.Pro1292del
XM_006717630.3:c.3177_3179del XP_006717693.1:p.Pro1060del
XR_945604.3:n.4116_4118del
XR_945605.3:n.3989_3991del