Canonical Allele Identifier: CA378124385
Gene: ABCC2 HGNC NCBI

Linked Data

gnomAD v4: 10-99836122-G-A
MyVariant Identifiers: chr10:g.101595879G>A (hg19) chr10:g.99836122G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99836122G>A , CM000672.2:g.99836122G>A GRCh38
NC_000010.10:g.101595879G>A , CM000672.1:g.101595879G>A GRCh37
NC_000010.9:g.101585869G>A NCBI36
NG_011798.1:g.58417G>A
NG_011798.2:g.58525G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.3446G>A MANE Select ENSP00000497274.1:p.Arg1149Lys
ENST00000370449.8:c.3446G>A ENSP00000359478.4:p.Arg1149Lys
NM_000392.4:c.3446G>A NP_000383.1:p.Arg1149Lys
XM_006717630.2:c.2750G>A XP_006717693.1:p.Arg917Lys
XR_945604.1:n.3635G>A
XR_945605.1:n.3637G>A
NM_000392.5:c.3446G>A MANE Select NP_000383.2:p.Arg1149Lys
XM_006717630.3:c.2750G>A XP_006717693.1:p.Arg917Lys
XR_945604.3:n.3689G>A
XR_945605.3:n.3689G>A
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