Canonical Allele Identifier: CA5643973
Gene: ABCC2 HGNC NCBI

Linked Data

dbSNP Id: rs779009758
ExAC: 10:101604045 AT / A
gnomAD v2: 10-101604045-AT-A
gnomAD v4: 10-99844288-AT-A
MyVariant Identifiers: chr10:g.101604046del (hg19) chr10:g.99844289del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99844289del , CM000672.2:g.99844289del GRCh38
NC_000010.10:g.101604046del , CM000672.1:g.101604046del GRCh37
NC_000010.9:g.101594036del NCBI36
NG_011798.1:g.66584del
NG_011798.2:g.66692del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.3844-33del MANE Select ENSP00000497274.1:n.3844-33del
ENST00000649459.1:n.192-33del
ENST00000370449.8:c.3844-33del ENSP00000359478.4:n.3844-33del
NM_000392.4:c.3844-33del NP_000383.1:n.3844-33del
XM_006717630.2:c.3148-33del XP_006717693.1:n.3148-33del
XR_945604.1:n.4033-33del
XR_945605.1:n.3908-33del
NM_000392.5:c.3844-33del MANE Select NP_000383.2:n.3844-33del
XM_006717630.3:c.3148-33del XP_006717693.1:n.3148-33del
XR_945604.3:n.4087-33del
XR_945605.3:n.3960-33del
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