Canonical Allele Identifier: CA2697558686
Gene: ABCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2705550
ClinVar RCV Id: RCV003575466
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99836239_99836240delinsAA , CM000672.2:g.99836239_99836240delinsAA GRCh38
NC_000010.10:g.101595996_101595997delinsAA , CM000672.1:g.101595996_101595997delinsAA GRCh37
NC_000010.9:g.101585986_101585987delinsAA NCBI36
NG_011798.1:g.58534_58535delinsAA
NG_011798.2:g.58642_58643delinsAA

Transcript Alleles

HGVS Amino-acid change
ENST00000647814.1:c.3563_3564delinsAA MANE Select ENSP00000497274.1:p.Val1188Glu
ENST00000370449.8:c.3563_3564delinsAA ENSP00000359478.4:p.Val1188Glu
NM_000392.4:c.3563_3564delinsAA NP_000383.1:p.Val1188Glu
XM_006717630.2:c.2867_2868delinsAA XP_006717693.1:p.Val956Glu
XR_945604.1:n.3752_3753delinsAA
XR_945605.1:n.3754_3755delinsAA
NM_000392.5:c.3563_3564delinsAA MANE Select NP_000383.2:p.Val1188Glu
XM_006717630.3:c.2867_2868delinsAA XP_006717693.1:p.Val956Glu
XR_945604.3:n.3806_3807delinsAA
XR_945605.3:n.3806_3807delinsAA
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