Canonical Allele Identifier: CA378124262
Gene: ABCC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99836094T>G , CM000672.2:g.99836094T>G GRCh38
NC_000010.10:g.101595851T>G , CM000672.1:g.101595851T>G GRCh37
NC_000010.9:g.101585841T>G NCBI36
NG_011798.1:g.58389T>G
NG_011798.2:g.58497T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.3418T>G MANE Select ENSP00000497274.1:p.Phe1140Val
ENST00000370449.8:c.3418T>G ENSP00000359478.4:p.Phe1140Val
NM_000392.4:c.3418T>G NP_000383.1:p.Phe1140Val
XM_006717630.2:c.2722T>G XP_006717693.1:p.Phe908Val
XR_945604.1:n.3607T>G
XR_945605.1:n.3609T>G
NM_000392.5:c.3418T>G MANE Select NP_000383.2:p.Phe1140Val
XM_006717630.3:c.2722T>G XP_006717693.1:p.Phe908Val
XR_945604.3:n.3661T>G
XR_945605.3:n.3661T>G