Canonical Allele Identifier: CA471131823
Gene: ABCC2 HGNC NCBI

Linked Data

gnomAD v4: 10-99836135-T-C
MyVariant Identifiers: chr10:g.101595892T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99836135T>C , CM000672.2:g.99836135T>C GRCh38
NC_000010.10:g.101595892T>C , CM000672.1:g.101595892T>C GRCh37
NC_000010.9:g.101585882T>C NCBI36
NG_011798.1:g.58430T>C
NG_011798.2:g.58538T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647814.1:c.3459T>C MANE Select ENSP00000497274.1:p.Ser1153=
ENST00000370449.8:c.3459T>C ENSP00000359478.4:p.Ser1153=
NM_000392.4:c.3459T>C NP_000383.1:p.Ser1153=
XM_006717630.2:c.2763T>C XP_006717693.1:p.Ser921=
XR_945604.1:n.3648T>C
XR_945605.1:n.3650T>C
NM_000392.5:c.3459T>C MANE Select NP_000383.2:p.Ser1153=
XM_006717630.3:c.2763T>C XP_006717693.1:p.Ser921=
XR_945604.3:n.3702T>C
XR_945605.3:n.3702T>C
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