Canonical Allele Identifier: CA378125161
Gene: ABCC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99836268T>C , CM000672.2:g.99836268T>C GRCh38
NC_000010.10:g.101596025T>C , CM000672.1:g.101596025T>C GRCh37
NC_000010.9:g.101586015T>C NCBI36
NG_011798.1:g.58563T>C
NG_011798.2:g.58671T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.3592T>C MANE Select ENSP00000497274.1:p.Phe1198Leu
ENST00000370449.8:c.3592T>C ENSP00000359478.4:p.Phe1198Leu
NM_000392.4:c.3592T>C NP_000383.1:p.Phe1198Leu
XM_006717630.2:c.2896T>C XP_006717693.1:p.Phe966Leu
XR_945604.1:n.3781T>C
XR_945605.1:n.3783T>C
NM_000392.5:c.3592T>C MANE Select NP_000383.2:p.Phe1198Leu
XM_006717630.3:c.2896T>C XP_006717693.1:p.Phe966Leu
XR_945604.3:n.3835T>C
XR_945605.3:n.3835T>C