Canonical Allele Identifier: CA1931484761
Gene: ABCC2 HGNC NCBI

Linked Data

dbSNP Id: rs2039088407
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99851561_99851562insTTTGTA , CM000672.2:g.99851561_99851562insTTTGTA GRCh38
NC_000010.10:g.101611318_101611319insTTTGTA , CM000672.1:g.101611318_101611319insTTTGTA GRCh37
NC_000010.9:g.101601308_101601309insTTTGTA NCBI36
NG_011798.1:g.73856_73857insTTTGTA
NG_011798.2:g.73964_73965insTTTGTA

Transcript Alleles

HGVS Amino-acid change
ENST00000647814.1:c.4568_4569insTTTGTA MANE Select ENSP00000497274.1:p.Gln1523HisfsTer3
ENST00000648523.1:c.638_639insTTTGTA
ENST00000370449.8:c.4568_4569insTTTGTA ENSP00000359478.4:p.Gln1523HisfsTer3
NM_000392.4:c.4568_4569insTTTGTA NP_000383.1:p.Gln1523HisfsTer3
XM_006717630.2:c.3872_3873insTTTGTA XP_006717693.1:p.Gln1291HisfsTer3
NM_000392.5:c.4568_4569insTTTGTA MANE Select NP_000383.2:p.Gln1523HisfsTer3
XM_006717630.3:c.3872_3873insTTTGTA XP_006717693.1:p.Gln1291HisfsTer3
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