Canonical Allele Identifier: CA378120950
Gene: ABCC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99830423C>T , CM000672.2:g.99830423C>T GRCh38
NC_000010.10:g.101590180C>T , CM000672.1:g.101590180C>T GRCh37
NC_000010.9:g.101580170C>T NCBI36
NG_011798.1:g.52718C>T
NG_011798.2:g.52826C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.2737C>T MANE Select ENSP00000497274.1:p.Leu913Phe
ENST00000370449.8:c.2737C>T ENSP00000359478.4:p.Leu913Phe
NM_000392.4:c.2737C>T NP_000383.1:p.Leu913Phe
XM_006717630.2:c.2041C>T XP_006717693.1:p.Leu681Phe
XM_011539291.1:c.2737C>T XP_011537593.1:p.Leu913Phe
XR_945604.1:n.2926C>T
XR_945605.1:n.2928C>T
NM_000392.5:c.2737C>T MANE Select NP_000383.2:p.Leu913Phe
XM_006717630.3:c.2041C>T XP_006717693.1:p.Leu681Phe
XM_011539291.3:c.2737C>T XP_011537593.1:p.Leu913Phe
XR_945604.3:n.2980C>T
XR_945605.3:n.2980C>T