Canonical Allele Identifier: CA212862284
Gene: ABCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 498804
ClinVar RCV Id: RCV000592247
dbSNP Id: rs577353173
MyVariant Identifiers: chr10:g.101596032G>A (hg19) chr10:g.99836275G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99836275G>A , CM000672.2:g.99836275G>A GRCh38
NC_000010.10:g.101596032G>A , CM000672.1:g.101596032G>A GRCh37
NC_000010.9:g.101586022G>A NCBI36
NG_011798.1:g.58570G>A
NG_011798.2:g.58678G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.3599G>A MANE Select ENSP00000497274.1:p.Trp1200Ter
ENST00000370449.8:c.3599G>A ENSP00000359478.4:p.Trp1200Ter
NM_000392.4:c.3599G>A NP_000383.1:p.Trp1200Ter
XM_006717630.2:c.2903G>A XP_006717693.1:p.Trp968Ter
XR_945604.1:n.3788G>A
XR_945605.1:n.3790G>A
NM_000392.5:c.3599G>A MANE Select NP_000383.2:p.Trp1200Ter
XM_006717630.3:c.2903G>A XP_006717693.1:p.Trp968Ter
XR_945604.3:n.3842G>A
XR_945605.3:n.3842G>A
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