Canonical Allele Identifier: CA595452689
Gene: ABCC2 HGNC NCBI

Linked Data

dbSNP Id: rs1310719227
gnomAD v2: 10-101596020-GT-G
MyVariant Identifiers: chr10:g.101596021del (hg19) chr10:g.99836264del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99836264del , CM000672.2:g.99836264del GRCh38
NC_000010.10:g.101596021del , CM000672.1:g.101596021del GRCh37
NC_000010.9:g.101586011del NCBI36
NG_011798.1:g.58559del
NG_011798.2:g.58667del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.3588del MANE Select ENSP00000497274.1:p.Cys1196TrpfsTer22
ENST00000370449.8:c.3588del ENSP00000359478.4:p.Cys1196TrpfsTer22
NM_000392.4:c.3588del NP_000383.1:p.Cys1196TrpfsTer22
XM_006717630.2:c.2892del XP_006717693.1:p.Cys964TrpfsTer22
XR_945604.1:n.3777del
XR_945605.1:n.3779del
NM_000392.5:c.3588del MANE Select NP_000383.2:p.Cys1196TrpfsTer22
XM_006717630.3:c.2892del XP_006717693.1:p.Cys964TrpfsTer22
XR_945604.3:n.3831del
XR_945605.3:n.3831del
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