Canonical Allele Identifier: CA378116712
Gene: ABCC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99817399G>T , CM000672.2:g.99817399G>T GRCh38
NC_000010.10:g.101577156G>T , CM000672.1:g.101577156G>T GRCh37
NC_000010.9:g.101567146G>T NCBI36
NG_011798.1:g.39694G>T
NG_011798.2:g.39802G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.2186G>T MANE Select ENSP00000497274.1:p.Arg729Met
ENST00000370449.8:c.2186G>T ENSP00000359478.4:p.Arg729Met
NM_000392.4:c.2186G>T NP_000383.1:p.Arg729Met
XM_006717630.2:c.1490G>T XP_006717693.1:p.Arg497Met
XM_006717631.2:c.2186G>T XP_006717694.1:p.Arg729Met
XM_011539291.1:c.2186G>T XP_011537593.1:p.Arg729Met
XR_945604.1:n.2375G>T
XR_945605.1:n.2377G>T
NM_000392.5:c.2186G>T MANE Select NP_000383.2:p.Arg729Met
XM_006717630.3:c.1490G>T XP_006717693.1:p.Arg497Met
XM_006717631.4:c.2186G>T XP_006717694.1:p.Arg729Met
XM_011539291.3:c.2186G>T XP_011537593.1:p.Arg729Met
XM_017015675.2:c.2186G>T XP_016871164.1:p.Arg729Met
XR_945604.3:n.2429G>T
XR_945605.3:n.2429G>T