Canonical Allele Identifier: CA378117663
Gene: ABCC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99818829C>G , CM000672.2:g.99818829C>G GRCh38
NC_000010.10:g.101578586C>G , CM000672.1:g.101578586C>G GRCh37
NC_000010.9:g.101568576C>G NCBI36
NG_011798.1:g.41124C>G
NG_011798.2:g.41232C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647814.1:c.2311C>G MANE Select ENSP00000497274.1:p.Leu771Val
ENST00000370449.8:c.2311C>G ENSP00000359478.4:p.Leu771Val
NM_000392.4:c.2311C>G NP_000383.1:p.Leu771Val
XM_006717630.2:c.1615C>G XP_006717693.1:p.Leu539Val
XM_006717631.2:c.2311C>G XP_006717694.1:p.Leu771Val
XM_011539291.1:c.2311C>G XP_011537593.1:p.Leu771Val
XR_945604.1:n.2500C>G
XR_945605.1:n.2502C>G
NM_000392.5:c.2311C>G MANE Select NP_000383.2:p.Leu771Val
XM_006717630.3:c.1615C>G XP_006717693.1:p.Leu539Val
XM_006717631.4:c.2311C>G XP_006717694.1:p.Leu771Val
XM_011539291.3:c.2311C>G XP_011537593.1:p.Leu771Val
XM_017015675.2:c.2311C>G XP_016871164.1:p.Leu771Val
XR_945604.3:n.2554C>G
XR_945605.3:n.2554C>G