Canonical Allele Identifier: CA5644036
Gene: ABCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2969650
ClinVar RCV Id: RCV003821784
dbSNP Id: rs767754823
ExAC: 10:101605513 C / T
gnomAD v2: 10-101605513-C-T
gnomAD v4: 10-99845756-C-T
MyVariant Identifiers: chr10:g.101605513C>T (hg19) chr10:g.99845756C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99845756C>T , CM000672.2:g.99845756C>T GRCh38
NC_000010.10:g.101605513C>T , CM000672.1:g.101605513C>T GRCh37
NC_000010.9:g.101595503C>T NCBI36
NG_011798.1:g.68051C>T
NG_011798.2:g.68159C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647814.1:c.4120C>T MANE Select ENSP00000497274.1:p.Arg1374Ter
ENST00000648523.1:c.8C>T
ENST00000649459.1:n.468C>T
ENST00000370449.8:c.4120C>T ENSP00000359478.4:p.Arg1374Ter
NM_000392.4:c.4120C>T NP_000383.1:p.Arg1374Ter
XM_006717630.2:c.3424C>T XP_006717693.1:p.Arg1142Ter
XR_945604.1:n.4250C>T
XR_945605.1:n.4184C>T
NM_000392.5:c.4120C>T MANE Select NP_000383.2:p.Arg1374Ter
XM_006717630.3:c.3424C>T XP_006717693.1:p.Arg1142Ter
XR_945604.3:n.4304C>T
XR_945605.3:n.4236C>T
Search 100 bp 5'
Search 100 bp 3'