Canonical Allele Identifier: CA5643855
Gene: ABCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 595943
ClinVar RCV Id: RCV000731631
dbSNP Id: rs559137047
ExAC: 10:101596013 C / T
gnomAD v2: 10-101596013-C-T
gnomAD v3: 10-99836256-C-T
gnomAD v4: 10-99836256-C-T
MyVariant Identifiers: chr10:g.101596013C>T (hg19) chr10:g.99836256C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99836256C>T , CM000672.2:g.99836256C>T GRCh38
NC_000010.10:g.101596013C>T , CM000672.1:g.101596013C>T GRCh37
NC_000010.9:g.101586003C>T NCBI36
NG_011798.1:g.58551C>T
NG_011798.2:g.58659C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.3580C>T MANE Select ENSP00000497274.1:p.Gln1194Ter
ENST00000370449.8:c.3580C>T ENSP00000359478.4:p.Gln1194Ter
NM_000392.4:c.3580C>T NP_000383.1:p.Gln1194Ter
XM_006717630.2:c.2884C>T XP_006717693.1:p.Gln962Ter
XR_945604.1:n.3769C>T
XR_945605.1:n.3771C>T
NM_000392.5:c.3580C>T MANE Select NP_000383.2:p.Gln1194Ter
XM_006717630.3:c.2884C>T XP_006717693.1:p.Gln962Ter
XR_945604.3:n.3823C>T
XR_945605.3:n.3823C>T
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