Canonical Allele Identifier: CA5644010
Gene: ABCC2 HGNC NCBI

Linked Data

dbSNP Id: rs746510307
ExAC: 10:101605369 CT / C
gnomAD v2: 10-101605369-CT-C
gnomAD v3: 10-99845612-CT-C
gnomAD v4: 10-99845612-CT-C
MyVariant Identifiers: chr10:g.101605370del (hg19) chr10:g.99845613del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99845613del , CM000672.2:g.99845613del GRCh38
NC_000010.10:g.101605370del , CM000672.1:g.101605370del GRCh37
NC_000010.9:g.101595360del NCBI36
NG_011798.1:g.67908del
NG_011798.2:g.68016del

Transcript Alleles

HGVS Amino-acid change
ENST00000647814.1:c.3988-11del MANE Select ENSP00000497274.1:n.3988-11del
ENST00000649459.1:n.336-11del
ENST00000370449.8:c.3988-11del ENSP00000359478.4:n.3988-11del
NM_000392.4:c.3988-11del NP_000383.1:n.3988-11del
XM_006717630.2:c.3292-11del XP_006717693.1:n.3292-11del
XR_945604.1:n.4177-70del
XR_945605.1:n.4052-11del
NM_000392.5:c.3988-11del MANE Select NP_000383.2:n.3988-11del
XM_006717630.3:c.3292-11del XP_006717693.1:n.3292-11del
XR_945604.3:n.4231-70del
XR_945605.3:n.4104-11del
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