Canonical Allele Identifier: CA378117557
Gene: ABCC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99818799C>T , CM000672.2:g.99818799C>T GRCh38
NC_000010.10:g.101578556C>T , CM000672.1:g.101578556C>T GRCh37
NC_000010.9:g.101568546C>T NCBI36
NG_011798.1:g.41094C>T
NG_011798.2:g.41202C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647814.1:c.2281C>T MANE Select ENSP00000497274.1:p.Leu761Phe
ENST00000370449.8:c.2281C>T ENSP00000359478.4:p.Leu761Phe
NM_000392.4:c.2281C>T NP_000383.1:p.Leu761Phe
XM_006717630.2:c.1585C>T XP_006717693.1:p.Leu529Phe
XM_006717631.2:c.2281C>T XP_006717694.1:p.Leu761Phe
XM_011539291.1:c.2281C>T XP_011537593.1:p.Leu761Phe
XR_945604.1:n.2470C>T
XR_945605.1:n.2472C>T
NM_000392.5:c.2281C>T MANE Select NP_000383.2:p.Leu761Phe
XM_006717630.3:c.1585C>T XP_006717693.1:p.Leu529Phe
XM_006717631.4:c.2281C>T XP_006717694.1:p.Leu761Phe
XM_011539291.3:c.2281C>T XP_011537593.1:p.Leu761Phe
XM_017015675.2:c.2281C>T XP_016871164.1:p.Leu761Phe
XR_945604.3:n.2524C>T
XR_945605.3:n.2524C>T