Canonical Allele Identifier: CA119598
Gene: ABCC2 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99808231T>A , CM000672.2:g.99808231T>A GRCh38
NC_000010.10:g.101567988T>A , CM000672.1:g.101567988T>A GRCh37
NC_000010.9:g.101557978T>A NCBI36
NG_011798.1:g.30526T>A
NG_011798.2:g.30634T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.1815+2T>A MANE Select ENSP00000497274.1:n.1815+2T>A
ENST00000370449.8:c.1815+2T>A ENSP00000359478.4:n.1815+2T>A
NM_000392.4:c.1815+2T>A NP_000383.1:n.1815+2T>A
XM_006717630.2:c.1119+2T>A XP_006717693.1:n.1119+2T>A
XM_006717631.2:c.1815+2T>A XP_006717694.1:n.1815+2T>A
XM_011539291.1:c.1815+2T>A XP_011537593.1:n.1815+2T>A
XR_945604.1:n.2004+2T>A
XR_945605.1:n.2006+2T>A
NM_000392.5:c.1815+2T>A MANE Select NP_000383.2:n.1815+2T>A
XM_006717630.3:c.1119+2T>A XP_006717693.1:n.1119+2T>A
XM_006717631.4:c.1815+2T>A XP_006717694.1:n.1815+2T>A
XM_011539291.3:c.1815+2T>A XP_011537593.1:n.1815+2T>A
XM_017015675.2:c.1815+2T>A XP_016871164.1:n.1815+2T>A
XR_945604.3:n.2058+2T>A
XR_945605.3:n.2058+2T>A