Canonical Allele Identifier: CA5643827
Gene: ABCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 498680
ClinVar RCV Id: RCV000592076
dbSNP Id: rs199938496
ExAC: 10:101595926 G / A
gnomAD v2: 10-101595926-G-A
gnomAD v4: 10-99836169-G-A
MyVariant Identifiers: chr10:g.101595926G>A (hg19) chr10:g.99836169G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99836169G>A , CM000672.2:g.99836169G>A GRCh38
NC_000010.10:g.101595926G>A , CM000672.1:g.101595926G>A GRCh37
NC_000010.9:g.101585916G>A NCBI36
NG_011798.1:g.58464G>A
NG_011798.2:g.58572G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.3493G>A MANE Select ENSP00000497274.1:p.Glu1165Lys
ENST00000370449.8:c.3493G>A ENSP00000359478.4:p.Glu1165Lys
NM_000392.4:c.3493G>A NP_000383.1:p.Glu1165Lys
XM_006717630.2:c.2797G>A XP_006717693.1:p.Glu933Lys
XR_945604.1:n.3682G>A
XR_945605.1:n.3684G>A
NM_000392.5:c.3493G>A MANE Select NP_000383.2:p.Glu1165Lys
XM_006717630.3:c.2797G>A XP_006717693.1:p.Glu933Lys
XR_945604.3:n.3736G>A
XR_945605.3:n.3736G>A
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