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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA378130789
Gene: ABCC2
HGNC
NCBI
Linked Data
gnomAD v4:
10-99851561-A-T
COSMIC:
COSM5611703
MyVariant Identifiers:
chr10:g.101611318A>T (hg19)
chr10:g.99851561A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.99851561A>T , CM000672.2:g.99851561A>T
GRCh38
NC_000010.10:g.101611318A>T , CM000672.1:g.101611318A>T
GRCh37
NC_000010.9:g.101601308A>T
NCBI36
NG_011798.1:g.73856A>T
NG_011798.2:g.73964A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000647814.1:c.4568A>T
MANE Select
ENSP00000497274.1:p.Gln1523Leu
ENST00000648523.1:c.638A>T
ENST00000370449.8:c.4568A>T
ENSP00000359478.4:p.Gln1523Leu
NM_000392.4:c.4568A>T
NP_000383.1:p.Gln1523Leu
XM_006717630.2:c.3872A>T
XP_006717693.1:p.Gln1291Leu
NM_000392.5:c.4568A>T
MANE Select
NP_000383.2:p.Gln1523Leu
XM_006717630.3:c.3872A>T
XP_006717693.1:p.Gln1291Leu
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