Canonical Allele Identifier: CA378126685
Gene: ABCC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99844344G>T , CM000672.2:g.99844344G>T GRCh38
NC_000010.10:g.101604101G>T , CM000672.1:g.101604101G>T GRCh37
NC_000010.9:g.101594091G>T NCBI36
NG_011798.1:g.66639G>T
NG_011798.2:g.66747G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.3866G>T MANE Select ENSP00000497274.1:p.Arg1289Met
ENST00000649459.1:n.214G>T
ENST00000370449.8:c.3866G>T ENSP00000359478.4:p.Arg1289Met
NM_000392.4:c.3866G>T NP_000383.1:p.Arg1289Met
XM_006717630.2:c.3170G>T XP_006717693.1:p.Arg1057Met
XR_945604.1:n.4055G>T
XR_945605.1:n.3930G>T
NM_000392.5:c.3866G>T MANE Select NP_000383.2:p.Arg1289Met
XM_006717630.3:c.3170G>T XP_006717693.1:p.Arg1057Met
XR_945604.3:n.4109G>T
XR_945605.3:n.3982G>T