Canonical Allele Identifier: CA471131383
Gene: ABCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2978083
ClinVar RCV Id: RCV003836745
dbSNP Id: rs1175974628
gnomAD v2: 10-101590176-A-G
gnomAD v3: 10-99830419-A-G
gnomAD v4: 10-99830419-A-G
MyVariant Identifiers: chr10:g.101590176A>G (hg19) chr10:g.99830419A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99830419A>G , CM000672.2:g.99830419A>G GRCh38
NC_000010.10:g.101590176A>G , CM000672.1:g.101590176A>G GRCh37
NC_000010.9:g.101580166A>G NCBI36
NG_011798.1:g.52714A>G
NG_011798.2:g.52822A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.2733A>G MANE Select ENSP00000497274.1:p.Arg911=
ENST00000370449.8:c.2733A>G ENSP00000359478.4:p.Arg911=
NM_000392.4:c.2733A>G NP_000383.1:p.Arg911=
XM_006717630.2:c.2037A>G XP_006717693.1:p.Arg679=
XM_011539291.1:c.2733A>G XP_011537593.1:p.Arg911=
XR_945604.1:n.2922A>G
XR_945605.1:n.2924A>G
NM_000392.5:c.2733A>G MANE Select NP_000383.2:p.Arg911=
XM_006717630.3:c.2037A>G XP_006717693.1:p.Arg679=
XM_011539291.3:c.2733A>G XP_011537593.1:p.Arg911=
XR_945604.3:n.2976A>G
XR_945605.3:n.2976A>G
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