Canonical Allele Identifier: CA5644177
Gene: ABCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3011077
ClinVar RCV Id: RCV003869740
dbSNP Id: rs766294851
ExAC: 10:101611245 C / T
gnomAD v2: 10-101611245-C-T
gnomAD v3: 10-99851488-C-T
gnomAD v4: 10-99851488-C-T
MyVariant Identifiers: chr10:g.101611245C>T (hg19) chr10:g.99851488C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99851488C>T , CM000672.2:g.99851488C>T GRCh38
NC_000010.10:g.101611245C>T , CM000672.1:g.101611245C>T GRCh37
NC_000010.9:g.101601235C>T NCBI36
NG_011798.1:g.73783C>T
NG_011798.2:g.73891C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647814.1:c.4509-14C>T MANE Select ENSP00000497274.1:n.4509-14C>T
ENST00000648523.1:c.579-14C>T
ENST00000370449.8:c.4509-14C>T ENSP00000359478.4:n.4509-14C>T
NM_000392.4:c.4509-14C>T NP_000383.1:n.4509-14C>T
XM_006717630.2:c.3813-14C>T XP_006717693.1:n.3813-14C>T
XR_945605.1:n.4573-14C>T
NM_000392.5:c.4509-14C>T MANE Select NP_000383.2:n.4509-14C>T
XM_006717630.3:c.3813-14C>T XP_006717693.1:n.3813-14C>T
XR_945605.3:n.4625-14C>T
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