Canonical Allele Identifier: CA378124760
Gene: ABCC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.101595942T>G (hg19) chr10:g.99836185T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99836185T>G , CM000672.2:g.99836185T>G GRCh38
NC_000010.10:g.101595942T>G , CM000672.1:g.101595942T>G GRCh37
NC_000010.9:g.101585932T>G NCBI36
NG_011798.1:g.58480T>G
NG_011798.2:g.58588T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.3509T>G MANE Select ENSP00000497274.1:p.Leu1170Trp
ENST00000370449.8:c.3509T>G ENSP00000359478.4:p.Leu1170Trp
NM_000392.4:c.3509T>G NP_000383.1:p.Leu1170Trp
XM_006717630.2:c.2813T>G XP_006717693.1:p.Leu938Trp
XR_945604.1:n.3698T>G
XR_945605.1:n.3700T>G
NM_000392.5:c.3509T>G MANE Select NP_000383.2:p.Leu1170Trp
XM_006717630.3:c.2813T>G XP_006717693.1:p.Leu938Trp
XR_945604.3:n.3752T>G
XR_945605.3:n.3752T>G
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