Canonical Allele Identifier: CA378130761
Gene: ABCC2 HGNC NCBI

Linked Data

gnomAD v4: 10-99851553-A-C
MyVariant Identifiers: chr10:g.101611310A>C (hg19) chr10:g.99851553A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99851553A>C , CM000672.2:g.99851553A>C GRCh38
NC_000010.10:g.101611310A>C , CM000672.1:g.101611310A>C GRCh37
NC_000010.9:g.101601300A>C NCBI36
NG_011798.1:g.73848A>C
NG_011798.2:g.73956A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647814.1:c.4560A>C MANE Select ENSP00000497274.1:p.Glu1520Asp
ENST00000648523.1:c.630A>C
ENST00000370449.8:c.4560A>C ENSP00000359478.4:p.Glu1520Asp
NM_000392.4:c.4560A>C NP_000383.1:p.Glu1520Asp
XM_006717630.2:c.3864A>C XP_006717693.1:p.Glu1288Asp
NM_000392.5:c.4560A>C MANE Select NP_000383.2:p.Glu1520Asp
XM_006717630.3:c.3864A>C XP_006717693.1:p.Glu1288Asp
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