Canonical Allele Identifier: CA2574638601
Gene: ABCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99836265_99836270del , CM000672.2:g.99836265_99836270del GRCh38
NC_000010.10:g.101596022_101596027del , CM000672.1:g.101596022_101596027del GRCh37
NC_000010.9:g.101586012_101586017del NCBI36
NG_011798.1:g.58560_58565del
NG_011798.2:g.58668_58673del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.3589_3594del MANE Select ENSP00000497274.1:p.Val1197_Phe1198del
ENST00000370449.8:c.3589_3594del ENSP00000359478.4:p.Val1197_Phe1198del
NM_000392.4:c.3589_3594del NP_000383.1:p.Val1197_Phe1198del
XM_006717630.2:c.2893_2898del XP_006717693.1:p.Val965_Phe966del
XR_945604.1:n.3778_3783del
XR_945605.1:n.3780_3785del
NM_000392.5:c.3589_3594del MANE Select NP_000383.2:p.Val1197_Phe1198del
XM_006717630.3:c.2893_2898del XP_006717693.1:p.Val965_Phe966del
XR_945604.3:n.3832_3837del
XR_945605.3:n.3832_3837del