Canonical Allele Identifier: CA2697558675
Gene: ABCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2755489
ClinVar RCV Id: RCV003564367

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99830443_99830444insGAATAGATAGCT , CM000672.2:g.99830443_99830444insGAATAGATAGCT GRCh38
NC_000010.10:g.101590200_101590201insGAATAGATAGCT , CM000672.1:g.101590200_101590201insGAATAGATAGCT GRCh37
NC_000010.9:g.101580190_101580191insGAATAGATAGCT NCBI36
NG_011798.1:g.52738_52739insGAATAGATAGCT
NG_011798.2:g.52846_52847insGAATAGATAGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.2747+10_2747+11insGAATAGATAGCT MANE Select ENSP00000497274.1:n.2747+10_2747+11insGAATAGATAGCT
ENST00000370449.8:c.2747+10_2747+11insGAATAGATAGCT ENSP00000359478.4:n.2747+10_2747+11insGAATAGATAGCT
NM_000392.4:c.2747+10_2747+11insGAATAGATAGCT NP_000383.1:n.2747+10_2747+11insGAATAGATAGCT
XM_006717630.2:c.2051+10_2051+11insGAATAGATAGCT XP_006717693.1:n.2051+10_2051+11insGAATAGATAGCT
XM_011539291.1:c.2747+10_2747+11insGAATAGATAGCT XP_011537593.1:n.2747+10_2747+11insGAATAGATAGCT
XR_945604.1:n.2936+10_2936+11insGAATAGATAGCT
XR_945605.1:n.2938+10_2938+11insGAATAGATAGCT
NM_000392.5:c.2747+10_2747+11insGAATAGATAGCT MANE Select NP_000383.2:n.2747+10_2747+11insGAATAGATAGCT
XM_006717630.3:c.2051+10_2051+11insGAATAGATAGCT XP_006717693.1:n.2051+10_2051+11insGAATAGATAGCT
XM_011539291.3:c.2747+10_2747+11insGAATAGATAGCT XP_011537593.1:n.2747+10_2747+11insGAATAGATAGCT
XR_945604.3:n.2990+10_2990+11insGAATAGATAGCT
XR_945605.3:n.2990+10_2990+11insGAATAGATAGCT